Single Nucleotide Polymorphisms (SNPs)

Explosions and molotov bomb throwing actions have prominent economic, psychological and social effects on the collective memory since they inflict nonrecoverable wounds. One of the prominent purposes of the crime scene investigation is to investigate the fingerprints in order to identify the identity of the offender. The purpose of this study is to determine the impact of heat on the quality of fingerprints on the findings obtained in crime scene and to create the standards to use as a routine investigation method in criminal laboratories of the law enforcers. Few studies have been published and little is known about this subject. The paper aims to discuss these issue. In this study, 720 fingerprint samples, which were created according to the conditions that would exist in the crime scenes after an explosion or handmade incendiary weapons incidents, had been 􀁈􀁛􀁄􀁐􀁌􀁑􀁈􀁇􀀑􀀃 􀂳􀀶􀁘􀁓􀁈􀁕􀀃􀀪􀁏􀁘􀁈􀂴􀀃􀁄􀁑􀁇􀀃 􀂳􀀶􀀳􀀵􀂴􀀃 􀁐􀁈􀁗􀁋􀁒􀁇􀁖􀀃 􀁚􀁈􀁕􀁈􀀃 􀁘􀁖􀁈􀁇􀀃 􀁒􀁑􀀃 􀁐􀁈􀁗􀁄􀁏􀀃 􀁄􀁑􀁇􀀃 􀁊􀁏􀁄􀁖􀁖􀀃 􀁖􀁄􀁐􀁓􀁏􀁈􀁖􀀃 􀁄􀁑􀁇􀀃 􀂳􀀱􀁌􀁑􀁋􀁜􀁇􀁕􀁌􀁑􀂴􀀃 method were used on paper samples in order to create fingerprints. All the samples were exposed to temperatures varying between 50oC-300oC. When different temperatures were taken into consideration, fingerprints suitable for comparison were obtained under all surface and environmental conditions up to 300oC. We are of the opinion that this study which is conducted for the first time in our country would significantly contribute to the identification of attackers and shed light on the incidents, especially in terrorist events.

The cooking quality of rice is associated with the starch gelatinization temperature (GT). Rice genotypes with low GT have probably been selected for their cooking quality by humans during domestication. We now report polymorphisms in starch synthase IIa (SSIIa) that explain the variation in rice starch GT. Sequence analysis of the eight exons of SSIIa identified significant polymorphism in only exon 8. These single nucleotide polymorphisms (SNPs) were determined in 70 diverse genotypes of rice. Two SNPs could classify all 70 genotypes into either high GT or low GT types which differed in GT by 8 °C. ‘A’ rather than ‘G’ at base 2412 determined whether a methionine or valine was present at the corresponding amino acid residue in SSIIa, whilst two adjacent SNPs at bases 2543 and 2544 coded for either leucine (GC) or phenylalanine (TT). Rice varieties with high GT starch had a combination of valine and leucine at these residues. In contrast, rice varieties with low GT starch had a combination of either methionine and leucine or valine and phenylalanine at these same residues. At least two distinct polymorphisms have apparently been selected for their desirable cooking qualities in the domestication of rice.

The genetics revolution that will transform our healthcare, the way we make babies, the nature of the babies we make, and ultimately our evolution as a species has already begun. It will arrive far sooner than most of us think and will transform our lives and the world around us in ways we can hardly imagine - and we aren't ready. If you have a sense that the genetics revolution is important but recognize you need to know more about what’s happening, what’s at stake, what this means for you, and what you should be doing now to prepare.

Could this be the most important book of our generation?

Capsicum species commonly known as Chilli pepper is one of the world's most important vegetable and spice crop. India is the world's largest producer, consumer and exporter of chilli pepper. Despite comprising 38 species, only six species of Capsicum namely, Capsicum annuum, C. assamicum, C. baccatum, C. frutescence, C. chinense and C. pubescens are cultivated. They are used as vegetables, spices, coloring agent and folk remedies (for diseases), proving their diverse role in human's life. Chilli pepper in mainly known for its pungency characteristics. The presence of capsaicinoids, a pungency character classifies pepper into sweet peppers and hot peppers. The molecular markers, quantitative trait loci developed by conventional breeding and classical genetic analysis have revealed number of genes for major and important traits. While, the newly developed next generation sequencing and genotyping technologies have been able to generate large scale genomic resources and to find the molecular basis of economically important traits in Capsicum genome. This chapter summarizes the advances in genomics and their applications in the form of generation of resources, comparative mapping, and identification of candidate genes for fruit trait, pungency, male sterility, disease resistance, viral resistance, nematode resistance and abiotic stress tolerance. In summary, we propose the integrated use of genomics and breeding approach in Capsicum translational research to enhance the crop productivity.

The sexual dimorphism of cardiovascular traits, as well as susceptibility to a variety of related diseases, has long been recognized, yet their sex-specific genomic determinants are largely unknown. We systematically assessed the sex-specific heritability and linkage of 539 hemodynamic, metabolic, anthropometric, and humoral traits in 120 French-Canadian families from the Saguenay-Lac-St-Jean region of Quebec, Canada. We performed multipoint linkage analysis using microsatellite markers followed by peak-wide linkage scan based on Affymetrix Human Mapping 50K Array Xba240 single nucleotide polymorphism genotypes in 3 settings, including the entire sample and then separately in men and women. Nearly one half of the traits were age and sex independent, one quarter were both age and sex dependent, and one eighth were exclusively age or sex dependent. Sex-specific phenotypes are most frequent in heart rate and blood pressure categories, whereas sex-and age-independent determinants are predominant among humoral and biochemical parameters. Twenty sex-specific loci passing multiple testing criteria were corroborated by 2-point single nucleotide polymorphism linkage. Several resting systolic blood pressure measurements showed significant genotypeby-sex interaction, eg, male-specific locus at chromosome 12 (male-female logarithm of odds difference: 4.16; interaction Pϭ0.0002), which was undetectable in the entire population, even after adjustment for sex. Detailed interrogation of this locus revealed a 220-kb block overlapping parts of TAO-kinase 3 and SUDS3 genes. In summary, a large number of complex cardiovascular traits display significant sexual dimorphism, for which we have demonstrated genomic determinants at the haplotype level. Many of these would have been missed in a traditional, sex-adjusted setting. (Hypertension. 2008;51:1156-1162.) Key Words: sex dimorphism Ⅲ genetic linkage Ⅲ single nucleotide polymorphisms Ⅲ cardiovascular disease T he sexual dimorphism of many physiological traits, as well as susceptibility to a wide variety of diseases, including hypertension, has long been recognized. 1 Both social and environmental factors, as well as biological influences, contribute to this dimorphism, yet their relative relevance is not well appreciated. Contributing genetic factors have been documented in both human subjects 2-4 and animal models. 5-9 However, only recent investigations into the sexspecific genetic architecture of complex traits led to the hypothesis that even the determinants of common conditions like hypertension, such as humoral regulation of volume, 10 and reaction to outcome events, such as myocardial infarction, 11 may have both unisex and sex-specific genetic determinants. 4 If that is the case, adjustment for sex during the analysis and interpretation of data may actually hide a significant portion of genome-driven physiology unique for men or women. Recent investigation found that less than one quarter of 628 recently published clinical cardiovascular studies reported sex-specific results. 12 There is a potentially sizeable impact of the genetically driven, sex-specific pathophysiology on clinical management of the above-mentioned conditions. Women have been shown to be more prone to adverse effects of, eg, angiotensin-converting enzyme inhibitors or antiarrhythmic drugs, 13 and the beneficial effects of aspirin therapy were reported to be attributed to reduction in the risk of ischemic stroke, but not myocardial infarction, in women, with the opposite observation in men. The sex-specific genetic architecture has been described for blood pressure (BP), 15-20 triglycerides, high-density lipoprotein cholesterol, 21 fasting insulin, 22 type 2 diabetes, 23 body mass index, 24,25 percentage of body fat, 26 bone mineral density, 27 serotonin 28 and cortisol 29 levels, asthma, 30 autism, 31 stuttering, 32 and several other complex phenotypes in various geoethnic groups. We previously reported the largest set of

Dental Irregularities are frequently related with orthodontic problems. It may include
variations in the number of teeth, size of teeth (Macro and Micro Dontia) or pattern of
eruption. Such anomalies may lead to disturbances in the arch length of maxilla and
mandible as well as occlusion. Sometimes they are associated with different syndromes. The
prevalence of such abnormalities is diverse in different societies and races of the world. In
fact, there was a significant change amongst genders of the same society. In Pakistan, the
prevalence of hypodontia, hyperdontia and impactions are found to be 3.38%, 0.95% and
8.57 respectively.

Single nucleotide polymorphisms and restriction digestion-based haplotype variations among 160 flood prone rice varieties were analyzed with enzymes Alu I and Cac8 I to generate polymorphisms at Sub1A and Sub1C loci (conferring submergence tolerance), respectively. Haplotype associated with phenotype was used to study the haplotype variations at Sub1A and Sub1C loci and to determine their functional influence on submergence tolerance and stem elongation. Three patterns at Sub1A locus, Sub1A0 (null allele), Sub1A1 (does not cut) and Sub1A2 (one SNP), and four patterns at Sub1C locus, Sub1C1, Sub1C2, Sub1C3 and Sub1C4, were generated. Both tolerant Sub1A1 and intolerant Sub1A2 had the same length, but the difference was presence of a restriction site in the Sub1A2, but absent at the Sub1A1. Further, two types of polymorphism were detected at the Sub1C, one included major length polymorphisms (165, 170 and 175 bp) and the other was a single restriction site at different position. Eight haplotypes (different combinations of the two loci), A1C1, A1C2, A1C4, A2C2, A2C4, A0C2, A0C3 and A0C4, were detected among 160 varieties. Haplotype A1C1 was comparatively more related to haplotypes A1C2 and A1C4, having the same Sub1A allele, and these haplotypes were found only in Bangladeshi, Sri Lankan and Indian varieties. Most tolerant varieties in A1C1 haplotype showed slow elongation, having tolerant specific Sub1A1 and Sub1C1 alleles. Further, the varieties Madabaru and Kottamali (A2C2) also showed moderate level of tolerance without Sub1A1 allele. These varieties were different with FR13A and also suspected to carry different novel tolerant genes at other loci. These materials could be used for hybridization with Sub1 varieties for pyramiding additional tolerant specific alleles into a single genotype for improving submergence tolerance in rice.

Single-nucleotide polymorphisms (SNPs) are simply small genetic differences for which a single nucleotide on a specific gene is known to vary. For example, for SNP x we could have the following genotypes: A/A, A/a, or a/a. This form of genetic data is very common in molecular biology, genetic epidemiology, and other related fields, and is often used for genetic association analysis (i.e., to explore the association between genotypes of SNP x with some outcome such as occurrence of a certain disease). Although multiple SNPs can be grouped together to indicate haplotype or diplotype, this document and the associated macro (SNPASSOC) only focus on the analysis of single SNPs. However, the macro does not require the SAS/Genetics package and, therefore, may be useful to those conducting single SNP analyses within SAS without access to this package. The SNPASSOC macro functionality includes genotype and allele frequencies, Hardy-Weinberg equilibrium test, and association testing under multiple genetic models, with or without covariate adjustment. Examples are provided using simulated data. Full macro code is available in the appendix.

Myostatin, encoded by the MSTN gene, is a strong regulator of skeletal muscle growth. The present study aimed to investigate whether the A55T and K153R polymorphisms of MSTN were associated with the strength training-induced muscle hypertrophy among Han Chinese men. A total of 94 healthy, untrained men were recruited for an 8-week strength training programme. The thicknesses of biceps and quadriceps, along with anthropometric measurements of the participants, were assessed before and after the programme. The MSTN polymorphisms were subsequently genotyped employing polymerase chain reaction-restriction fragment length polymorphism technique and confirmed by DNA sequencing. One-way analysis of variance was used to compare the pre- and post-training measurements between carriers of different polymorphic genotypes. Our results indicated that individuals with AT + TT genotype of the A55T polymorphism showed a significant increase in the thickness of biceps (0.292 ± 0.210 cm, P = 0.03), but not quadriceps (0.254 ± 0.198 cm, P = 0.07), compared to carriers of AA genotype. For the K153R polymorphism, the increases in the thicknesses of both biceps (0.300 ± 0.131 cm) and quadriceps (0.421 ± 0.281 cm) were significantly higher among individuals with KR than those with KK genotypes (P < 0.01 for both muscles). The results obtained therefore suggested a possible association between the two polymorphisms and the strength training-induced muscle hypertrophy among men of Han Chinese ethnicity.

Background and Aim: Heat shock proteins (HSPs) are a group of proteins that play a significant role in protecting cells against cellular stress. HSP70 is a conserved, sensitive, and abundant gene associated with heat stress's physiological adaptability. The objective of this study was to reveal the polymorphisms of the partial sequences of the HSP70 gene (5' untranslated region [UTR]) in seven cattle populations in Indonesia.

Materials and Methods: Polymerase chain reaction products (551 bp) of the HSP70 gene amplified from 102 animals representing seven cattle populations (Bali, Belgian Blue × Peranakan Ongole [PO] cross, Galekan, Jabres, Madura, PO, and Rambon) were sequenced by DNA sequencing method.

Results: Fourteen single-nucleotide polymorphisms (SNPs), generally found at a low frequency, were detected. Among these SNPs, only 1117G>A, 1125A>C, and 1204T>C were polymorphic in all the analyzed breeds. A Chi-square test showed that the majority of the loci were in Hardy–Weinberg equilibrium (p>0.05). Varying levels of observed (0.050-0.571) and expected heterozygosity (0.049-0.500) were noted. The polymorphism information content values (0.048-0.375) indicated that the SNPs in the HSP70 gene showed low-to-moderate polymorphism in the studied populations. Thirty-six haplotypes were defined according to the identified SNPs, of which haplotype Hap5 (CGACGAGAGTGTCC) and Hap4 (CGACGAGAGTGCCC) were generally dominant in the studied samples. The phylogenetic tree showed a close relationship between Bali and Rambon cattle and between Galekan and Jabres cattle, while the Belgian Blue × PO crossbred cattle were farther apart.

Conclusion: The polymorphisms in the 5' UTR of the HSP70 gene identified in this study should be further investigated in a larger population to unravel the association between the SNPs and thermotolerance in Indonesian local cattle populations.

—Introgressive hybridization is an obstacle to the conservation of many species and subspecies. Diagnostic genetic markers or markers with high allele frequency differentials, such as single-nucleotide polymorphisms (SNPs), are becoming increasingly useful for detecting introgression between species or subspecies, such as subspecies of rainbow trout Oncorhynchus mykiss known as redband trout in the upper McCloud River watershed. Using a diagnostic mitochondrial SNP as well as nine nuclear SNPs, we quantified introgression levels between native redband trout and nonnative rainbow trout at 14 locations in the upper McCloud watershed and two locations in the lower McCloud region. Our analyses suggest that Sheepheaven, Edson, Moosehead, and Swamp creeks contain a large portion of the nonintrogressed redband trout individuals remaining in the upper McCloud watershed, implying a dramatic loss of populations free from introgressive hybridization. The results of this study have key management implications, such as the need to erect migration barriers and cease all stocking in the area. However, for managers to make fully informed decisions, additional research is needed on the population genetic structure and phylogenetics of these populations to clarify the issues of low genetic variation, inbreeding, or both and to define an appropriate management unit.

A single nucleotide polymorphism or SNP is a site of the genome where variation occurs within a population. Almost all SNPs have only two alleles (variants). In this work, we consider a statistical method based on a likelihood ratio test to detect these SNPs. We will also present some initial results of the analysis of real genome sequence data.

The present study was conducted in collaboration with Department of Animal Genetics and Breeding, OUAT and WBUAFS to review on new class of advanced molecular marker techniques derived from combination of earlier basic molecular marker for the genetic improvement of livestock from December, 2016 to June, 2017. In the protein coding region of mtDNA, the cytochrome oxidase I gene has recently gained more attention in developing DNA barcodes for species identification and biodiversity analysis. Among, nuclear marker techniques, RAPD and AFLP are being applied to cDNA based templates to study patterns of gene expression through advanced technique like ESTs and SSCP. While RFPL and microsatellites techniques are used for detecting marker-QTL linkages that accomplished by the use of MAS, genetic fingerprinting and mixture models based on segregation analysis principle. The present study objective was to review the utility of advanced molecular marker technology for selection and genetic improvement of animals.

The next 'golden age' in vaccinology will be ushered in by the new science of vaccinomics. In turn, this will inform and allow the development of personalized vaccines, based on our increasing understanding of immune response phenotype: genotype information. Rapid advances in developing such data are already occurring for hepatitis B, influenza, measles, mumps, rubella, anthrax and smallpox vaccines. In addition, newly available data suggest that some vaccine-related adverse events may also be genetically determined and, therefore, predictable. This paper reviews the basis and logic of personalized vaccines, and describes recent advances in the field.

Renal failure or kidney failure is a situation in which the kidneys fail to function adequately. Angiotensin
converting enzyme plays a pivotal role in blood pressure regulation and electrolyte balance by hydrolyzing
angiotensin I to angiotensin II. The Angiotensin Converting Enzyme (ACE) gene contains a polymorphism
which is believed to be associated with the interpersonal variability of ACE levels in circulating blood. Elevated
angiotensin II level makes deleterious effects on renal hemodynamics and induces the expression of other growth
factors, leading to glomerulosclerosis. This paper attempts to find the association of ACE polymorphism with
renal failure using Random Amplification of Polymorphic DNA technique arriving to the major conclusion that
ACE polymorphism is an innate property in End Stage Renal Failure (ESRF) and ACE screening would be a
valuable diagnostic tool in screening clinical ESRF.

BACKGROUND:

We hypothesized that genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene are associated with prostate cancer risk.
METHODS:

We genotyped three MTHFR polymorphisms (C677T, A1298C, and G1793A) and measured serum total homocysteine (tHcy), folate, and vitamin B12 levels in a case-control study of 174 cases and 348 normal healthy controls. The cancer-free controls were frequency matched to the cases by age (±2 years), educational level, occupational status, ethnicity, and smoking status.
RESULTS:

We found that the MTHFR 677TT and 1298CC genotypes were associated with an about 40% reduction in risk of prostate cancer (adjusted OR = 0.59, 95% CI = 0.41-0.94, and adjusted OR = 0.58, 95% CI = 0.32-0.91, respectively) compared to the 677CC, and 1298AA genotypes. The combined variant genotypes of 1298AC + 677CC were associated with a 30% reduction in risk of prostate cancer (OR = 0.70; 95% CI = 0.53-0.79). In contrast, the variant genotypes of 1793GA + 677CT were associated with slightly increased risk for prostate cancer (OR = 1.64; 95% CI = 0.86-2.15). Regarding prostate cancer aggressiveness, the 677TT genotype was associated with more than 50% decreased risk of high-grade prostate cancer (Gleason score >7) compared with the 677CC and 677CT genotypes (OR = 0.35, 95% CI = 0.24-0.64; P = 0.001). There was no significant difference in plasma levels of tHcy, folate, and vitamin B12 between the two groups with any genotypes.
CONCLUSION:

These data suggest that all three MTHFR polymorphisms may play a pivotal role in the developing prostate cancer. Larger studies in different ethnic populations and incorporating dietary folate intake are needed to replicate our findings.

Show-jumping is an economically important breeding goal in Hanoverian warmblood horses. The aim of this study was a genome-wide association study (GWAS) for quantitative trait loci (QTL) for show-jumping in Hanoverian warmblood horses, employing the Illumina equine SNP50 Beadchip. For our analyses, we genotyped 115 stallions of the National State stud of Lower Saxony. The show-jumping talent of a horse includes style and ability in freejumping. To control spurious associations based on population stratification, two different mixed linear animal model (MLM) approaches were employed, besides linear models with fixed effects only and adaptive permutations for correcting multiple testing. Population stratification was explained best in the MLM considering Hanoverian, Thoroughbred, Trakehner and Holsteiner genes and the marker identity-by-state relationship matrix. We identified six QTL for show-jumping on horse chromosomes (ECA) 1, 8, 9 and 26 ()log 10 P-value >5) and further putative QTL with )log 10 P-values of 3-5 on ECA1, 3, 11, 17 and 21. Within six QTL regions, we identified human performance-related genes including PAPSS2 on ECA1, MYL2 on ECA8, TRHR on ECA9 and GABPA on ECA26 and within the putative QTL regions NRAP on ECA1, and TBX4 on ECA11. The results of our GWAS suggest that genes involved in muscle structure, development and metabolism are crucial for elite show-jumping performance. Further studies are required to validate these QTL in larger data sets and further horse populations.

L'étude de marqueurs polymorphiques dans l'ADN humain a ouvert la voie à de nouveaux modes d'interprétation de la diversité humaine aux applications très diverses. Mais comment ces interprétations sont-elles construites ? La nouveauté technique ne cache-t-elle le vieux concept de race ? La vie des idées : Grand vulgarisateur des recherches actuelles sur les polymorphismes humains sur lesquelles vous avez notamment publié L'humanité au pluriel : la génétique et la question des races (Seuil, 2008), vous n'êtes pas vous-même praticien de ce champ. Comment en êtes-vous venu à travailler sur la question de la diversité humaine d'un point de vue génétique en partant d'une thèse de physique nucléaire ?

Background: The antigen processing 1 (TAP1) and proteasome 20S subunit beta 9 (PSMB9) genes are associated with strong susceptibility to many autoimmune diseases. Here, we explored whether TAP1/PSMB9 genetic variants, individually or combined, affected susceptibility to the complex, autoimmune-based skin disorder vitiligo. Methods: Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using TaqMan™ genotyping assays for the TAP1 rs1135216 (A>G) and PSMB9 rs17587 (A>G) single nucleotide polymorphisms (SNPs). SNPStats software (https://www.snpstats.net) was utilized to choose the best interactive inheritance mode for selected SNPs. Results: The genotype frequencies for the TAP1 rs1135216 and PSMB9 rs17587 SNPs were in Hardy-Weinberg equilibrium for cases (P= 0.11 and P= 0.10, respectively) but not for controls (P< 0.05). The TAP1 rs1135216 (D637G) and PSMB9 rs17587 (R60H) SNPs increased the risk of vitiligo four-fold and twofold , respectively (odds ratio [OR]= 4.6; 95% confidence interval [CI], 3.2-6.5; P< 0.0001 and OR= 2.2; 95% CI, 1.5-3.1; P< 0.0001). The recessive model (G/G-D/G versus D/D) and the codominant model (R/R versus R/H) were the best models of inheritance for the rs113526 and rs17587 SNPs, respectively (OR= 16.4; 95% CI, 2.0-138; P= 0.0006 and OR= 1.7; 95% CI, 0.3-1.8; P= 0.013). Vulgaris, focal vulgaris, and acryl/acrofacial were the most common vitiligo subtypes in our sample (51%, 21%, and 19%, respectively). Heterozygous rs113526 (637D/G) and rs17587 (60R/H) were the most common genotypes in most vitiligo subtypes. The heterozygous 637D/G genotype and the 637G variant allele were significantly more common in patients with active disease than in patients with stable disease (P= 0.000052 and P= 0.0063, respectively). Conclusion: Our findings suggest a crucial role for TAP1 rs1135216 and PSMB9 rs17587 in the risk and progression of vitiligo in the Saudi community. Genomic analyses are needed to identify more candidate genes and more genetic variants associated with vitiligo.

RESUMEN El objetivo de este trabajo fue evaluar un panel reducido de 200 marcadores de polimorfismo de nucleótido simple recomendados por la Sociedad Internacional de Genética Animal y el Comité Internacional de Registro de Animales, mediante secuenciación de siguiente generación. Se utilizaron parámetros como número de loci utilizables, polimorfismo de loci, heterocigosis observada (Hob) y esperada (He), diversidad molecular media por loci (DML), distancia entre poblaciones, índice de fijación que estima el coeficiente de endogamia (Fis) y valor de diferenciación genética entre poblaciones (Fst). Del total de loci utilizados, se observó un promedio de 186 alelos utilizables; máximo de 187 en la raza Guabalá y un mínimo de 183 en la Brahman. Una media de 174 loci polimórficos con un máximo de 184 en genotipos cruzados y un mínimo de 149 en la raza Guabalá. Los valores de Hob, He y DML fueron 0,378, 0,439 y 0,438, respectivamente. El Análisis Molecular de Varianza (AMOVA) mostró un porcentaje de variación entre poblaciones de 19,25 e índice Fst de 0,19. El porcentaje de variación y Fst entre las razas criollas panameñas y cebuinas fueron de 5,22% y 0,22, respectivamente y el porcentaje de variación entre razas criollas y taurinas fue 1,82 con índice de diferenciación genética Fst de 0,163, respectivamente. Los valores de endogamia (Fis) oscilaron entre 0,00302 (Guaymí) a 0,04333 (Holstein); valores negativos de Fis se observaron en la raza Senepol y Guabalá por lo que se presume un efecto Wahlund. El árbol de distancias circulares mostró un comportamiento similar a los reportados en trabajos realizados con microsatélites al igual que lo observado en el AMOVA y Fst en las poblaciones. Los resultados preliminares apuntan a que los marcadores de polimorfismo de nucleótido simple utilizados tienen potencial para estudios de diversidad genética y se recomienda ampliar el estudio a más razas y números de animales.

eastern (San Cristóbal and Santa Cruz Islands) stock. Effective population size (N e) estimates of approximately 200 suggest these populations are susceptible to ongoing natural and anthropogenic stressors and are of concern for long term resilience of populations. Mitochondrial DNA failed to identify distinct stocks, with AMOVA analyses indicating most genetic variation occurs within, rather than among locations. This pattern of genome-wide nuclear (but not mtDNA) discrimination among neighbouring islands either points to possible sex-biased dispersal by females or identifies limitations of the single organelle mtDNA marker at such small spatial scales. Regional differences across the archipelago or in behaviour may be implicated in the observed population structure. Further research focusing on a larger, Pacific wide analysis of population connectiv-ity and effective population size at a broader spatial scale is required, to estimate the extent of discreteness and potential local adaptation. Potential adaptive units (AUs) in Galapa-gos sharks should ultimately be identified to leverage adap-tive management and fisheries forensics applications. Keywords DArTSeq SNPs · Management units · Connectivity · N e · Fisheries · Galapagos · Marine Protected Area

Social dysfunction is common in patients with psychotic disorders. Oxytocin is a neuropeptide with a central role in social behavior. This study aims to explore the relationship between oxytocin pathway genes and symptoms related to social dysfunction in patients with psychotic disorders. We performed association analyses between four oxytocin pathway genes (OXT, OXTR, AVP, and CD38) and four areas of social behavior-related psychopathology as measured by Positive and Negative Syndrome Scale. For this purpose, we used both a polygenic risk score (PGRS) and single OXTR candidate single nucleotide polymorphism previously reported in the literature (rs53576, rs237902, and rs2254298). A total of 734 subjects with DSM-IV psychotic spectrum disorders and 420 healthy controls were included. Oxytocin pathway PGRSs were calculated based on the independent Psychiatric Genomics Consortium study sample. There was a significant association between symptom of Emotional Withdrawal and the previous...

Life-history theory assumes that animal life histories are a consequence of trade-offs between current activities and future reproductive performance or survival, because resource supply is limited. Empirical evidence for such trade-offs in the wild are common, yet investigations of the underlying mechanisms are rare. Life-history trade-offs may have both physiological and ecological mediated costs. One hypothesized physiological mechanism is that elevated energy metabolism may increase reactive oxygen species production, leading to somatic damage and thus compromising future survival. We investigated the impact of experimentally elevated energy expenditure on oxidative damage, protection and lifespan in short-tailed field voles (Microtus agrestis) maintained in captivity to remove any confounding ecological factor effects. Energy expenditure was elevated via lifelong cold exposure (7G28C), relative to siblings in the warm (22G28C). No treatment effect on cumulative mortality risk was observed, with negligible effects on oxidative stress and antioxidant protection. These data suggest that in captive animals physiologically mediated costs on life history do not result from increased energy expenditure and consequent elevations in oxidative stress and reduced survival.

transferrin (Tf) protein plays a crucial role in immunity against microbial pathogens like Escherichia coli, Streptococcus dysgalactiae, Streptococcus uberis, Staphylococcus aureus, and Streptococcus agalactiae those considered the main causes of mastitis in bovine. The effectiveness of transferrin protein lies in the prevention of microbial cells from getting iron. The study of polymorphisms and detection of the single nucleotide polymorphisms (SNPs) of Tf gene could support the description of the inheritance differences of mastitis resistance and milk production traits. In this study A14037G SNP has been detected and new SNP was observed (C14081T) of Tf gene (entron 8) in Holstein-Frisian cows in Iraq. DNA was collected from 165 cows and the sequencing technique was used to investigate the genetic variation of two SNPs, A14037G and C14081T respectively. The percentages of genotype distribution for the transferring gene in sample of cows were 23.64, 58.18 and 18.18 % for the genotypes AA, AG and GG respectively and the differences between these percentages were significant (P< 0.01). Allele's frequencies for alleles (A) and (G) were 0.53 and 0.47 respectively according to the analysis of transferrin gene (Tf). High correlation was found between polymorphism and three genotypes, namely, AACC, AGCT and GGTT by two alleles AC (A), as a wild and GT as a mutant allele respectively were observed. Homogenotype in A14037G SNP (AG) AG was superior to other genotypes (AA and GG) in all traits except for fat percentage.

Social dysfunction is common in patients with psychotic disorders. Oxytocin is a neuropeptide with a central role in social behavior.This study aims to explore the relationship between oxytocin pathway genes and symptoms related to social dysfunction in patients with psychotic disorders. We performed association analyses between four oxytocin pathway genes (OXT, OXTR, AVP, and CD38) and four areas of social behavior-related psychopathology as measured by Positive and Negative Syndrome Scale. For this purpose, we used both a polygenic risk score (PGRS) and single OXTR candidate single nucleotide polymorphism previously reported in the literature (rs53576, rs237902, and rs2254298). A total of 734 subjects with DSM-IV psychotic spectrum disorders and 420 healthy controls were included. Oxytocin pathway PGRSs were calculated based on the independent Psychiatric Genomics Consortium study sample. There was a significant association between symptom of Emotional Withdrawal and the previously reported OXTR risk allele A in rs53576. No significant associations between oxytocin pathway gene variants and a diagnosis of psychotic disorder were found. Our findings indicate that while oxytocin pathway genes do not appear to contribute to the susceptibility to psychotic disorders, variations in the OXTR gene might play a role in the development of impaired social behavior.

Summary Single nucleotide polymorphisms (SNPs) are the most abundant type of molecular genetic marker and can be used for producing high-resolution genetic maps, marker-trait association studies and marker-assisted breeding. Large polyploid genomes such as wheat present a challenge for SNP discovery because of the potential presence of multiple homoeologs for each gene. AutoSNPdb has been successfully applied to identify SNPs from Sanger sequence data for several species, including barley, rice and Brassica, but the ...

Aim: To evaluate the roles of four selected genetic variations in fetal and maternal progesterone receptor gene (PGR) and to identify women who may have higher or lower odds for spontaneous premature birth compared to the general population. Methods: A preliminary case-control study with two groups of pregnant women (with term and premature delivery, 218 in total) and two groups of newborns (term and preterm, 218 in total) was performed. Four single nucleotide polymorphisms (SNPs) of the progesterone receptor gene (rs1042838, rs1042839, rs10895068, and rs1942836) were genotyped. Results: There was statistically significant difference between cases and controls in the distribution of newborns' allele frequency of minor C allele of the PGR SNP rs1942836 (p = 0.03, Fishers' exact test) in favor of premature birth. A statistically significant difference between the frequency of the mothers' minor T allele of rs1042838 (p = 0.005; chi-squared test) and the mothers' minor T allele of rs1042839 (p = 0.005; chi-squared test) in favor of extremely premature birth has been found. There was a statistically significant difference between the frequency of the newborns' minor C allele of rs1942836 (p = 0.03; chi-squared test) and newborns' heterozygotes CT genotype of rs1942836 (p = 0.03; Fishers' exact test) when comparing the group of term births and the group of early premature birth. Conclusion: Our study suggests that patients with selected genetic variants of the progesterone receptor gene could have greater odds for premature birth compared to term birth. Replication studies with a larger population and different ethnicity are needed in order to confirm these findings.