Pulse oximetry is used extensively in hospital and home settings to measure arterial oxygen satur... more Pulse oximetry is used extensively in hospital and home settings to measure arterial oxygen saturation (SpO2). Interpretation of the trend and range of SpO2 values observed in infants is currently limited by a lack of reference ranges using current devices, and may be augmented by development of cumulative frequency (CF) reference-curves. This study aims to provide reference oxygen saturation values from a prospective longitudinal cohort of healthy infants. Prospective longitudinal cohort study. Sleep-laboratory. 34 healthy term infants were enrolled, and studied at 2 weeks, 3, 6, 12 and 24 months of age (N=30, 25, 27, 26, 20, respectively). Full overnight polysomnography, including 2 s averaging pulse oximetry (Masimo Radical). Summary SpO2 statistics (mean, median, 5th and 10th percentiles) and SpO2 CF plots were calculated for each recording. CF reference-curves were then generated for each study age. Analyses were repeated with sleep-state stratifications and inclusion of manual...
KPNA3is a gene that has been linked to schizophrenia susceptibility. In this study we investigate... more KPNA3is a gene that has been linked to schizophrenia susceptibility. In this study we investigated the possible association betweenKPNA3variation and schizophrenia. To investigate a wider role ofKPNA3across psychiatric disorders we also analysed major depression, PTSD, nicotine dependent, alcohol dependent and opiate dependent cohorts. Using a haplotype block-based gene-tagging approach we genotyped sixKPNA3single nucleotide polymorphisms (SNPs) in 157 schizophrenia patients, 121 post-traumatic stress disorder patients, 120 opiate dependent patients, 231 alcohol dependent patients, 147 nicotine dependent patients and 266 major depression patients. One SNP rs2273816 was found to be significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level. Major depression was also associated with rs2273816 but only at the allele level. Our study suggests that KPNA3 may contribute to the genetic susceptibility to schizophrenia as well as ot...
International Journal of Environmental Research and Public Health, 2020
This paper presents trends and characteristics for 32,094 suicidal presentations to two Emergency... more This paper presents trends and characteristics for 32,094 suicidal presentations to two Emergency Departments (EDs) in a large health service in Australia across a 10-year period (2009–2018). Prevalence of annual suicidal presentations and for selected groups of consumers (by sex, age groups, and ethnicity) was determined from a machine learning diagnostic algorithm developed for this purpose and a Bayesian estimation approach. A linear increase in the number of suicidal presentations over 10 years was observed, which was 2.8-times higher than the increase noted in all ED presentations and 6.1-times higher than the increase in the population size. Females had higher presentation rates than males, particularly among younger age groups. The highest rates of presentations were by persons aged 15–24. Overseas-born persons had around half the rates of suicidal presentations than Australian-born persons, and Indigenous persons had 2.9-times higher rates than non-Indigenous persons. Of all...
This is the author manuscript accepted for publication and has undergone full peer review but has... more This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as
Journal clubs (JC) may increase clinicians' evidence-based practice (EBP) skills and facilita... more Journal clubs (JC) may increase clinicians' evidence-based practice (EBP) skills and facilitate evidence uptake in clinical practice, however there is a lack of research into their effectiveness in allied health. We investigated the effectiveness of a structured JC that is Tailored According to Research Evidence And Theory (TREAT) in improving EBP skills and practice compared to a standard JC format for allied health professionals. Concurrently, we explored the feasibility of implementing TREAT JCs in a healthcare setting, by evaluating participating clinicians' perceptions and satisfaction. We conducted an explanatory mixed methods study involving a cluster randomised controlled trial with a nested focus group for the intervention participants. Nine JCs with 126 allied health participants were randomly allocated to receive either the TREAT or standard JC format for 1 h/month for 6 months. We conducted pre-post measures of EBP skills and attitudes using the EBP questionnaire...
International Journal of Pediatric Endocrinology, 2015
Hughes et al.: Insulin-like Growth Factor 1 (IGF-1) measurements recorded in the OZGROW database ... more Hughes et al.: Insulin-like Growth Factor 1 (IGF-1) measurements recorded in the OZGROW database and their relation to growth response in children currently being treated with growth hormone.
(2012) A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of ... more (2012) A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset : HapMap tag-single-nucleotide polymorphism analysis. Genetic Testing and Molecular Biomarkers, 16(2), pp. 77-81.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society, Jun 24, 2017
Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very you... more Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). Prospective longitudinal clinical intervention. We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT. At commencement of GHT infants had a lower BMI SDSWHO (-0.88 vs 0.40) than toddlers, while toddlers had a lower height SDSWHO (-1.44 vs -2.09) (both P<0.05). All increased height SDSWHO (2year delta height infants +1.26 SDS, toddlers+1.21 SDS), but infants normalised height sooner, achieving a height SDS of -0.56 within 1year, while toddlers achieved a height SDS of -0.88 in two years. BMI SDSWHO increased, while BMI SDSPWS decreased (both P<0.0001) and remained negative. ...
International Journal of Pediatric Endocrinology, 2015
We aimed to assess the benefits and safety of low dose growth hormone treatment (GHT, 4.5 mg/m 2 ... more We aimed to assess the benefits and safety of low dose growth hormone treatment (GHT, 4.5 mg/m 2 /week) in young children with genetically confirmed Prader-Willi Syndrome (PWS). Methods Data of 20 infants (2-12 months) and 24 toddlers (13-24 months) were collected from the PWS-OZGROW database. The two groups were evaluated for standard deviation scores (SDS) of height (length under age 2 years), weight and BMI using the World Health Organization standards (SDS WHO) and PWS specific BMI (SDS PWS), bone age (BA), insulin-like growth factor-1 (IGF-1) levels, hypotonia, developmental delay, spinal curvature, sleep studies and adverse events over 2 years of GHT.
Aim: (i) To compare the Centers for Disease Control and Prevention (CDC) reference and World Heal... more Aim: (i) To compare the Centers for Disease Control and Prevention (CDC) reference and World Health Organization (WHO) standard/reference for height, particularly with respect to short stature and eligibility for growth hormone (GH) treatment by applying them to contemporary Australian children; (ii) To examine the implications for identifying short stature and eligibility for GH treatment. Methods: Children from the longitudinal Raine Study were serially measured for height from 1991 to 2005 (2-15-year-old girls (660) and boys (702) from Western Australia). In the cross-sectional Australian National Children's Nutrition and Physical Activity survey (2-16-year-old boys (2415) and girls (2379) from all states), height was measured in 2007. Heights were converted to standard deviation scores (SDSs) based on CDC and WHO. Results: Means and standard deviations of height-SDS varied between CDC and WHO definitions and with age and gender within each definition. However, both identified similar frequencies of short stature (<1st centile for GH eligibility), although these were very significantly less than the anticipated 1% (0.1-0.7%) of the Australian cohorts. Mean heights in the Australian cohorts were greater than both the WHO and CDC means. Conclusions: Neither CDC nor WHO height standardisations accurately reflect the contemporary Australian child population. Australian children are taller than the CDC or WHO height means, and significantly less than 1% of Australian children are defined as being short using either CDC or WHO. This study suggests there may be a case for an Australian-specific standard/reference for height.
The frequency of diabetes mellitus is described for cats that received veterinary care from two l... more The frequency of diabetes mellitus is described for cats that received veterinary care from two large feline-only clinics in Brisbane, Australia. Frequency was estimated using period prevalences (the proportion of the population at risk that was affected by diabetes at any point during a specified time period). Of the 12,576 study cats, 93 were affected with diabetes during the 5-year study period, resulting in a 5-year period prevalence of 7.4 per 1000 cats. Period prevalence was significantly higher in Burmese cats (22.4 cats per 1000) than domestic short and longhaired cats (7.6 cats per 1000) and the mean age at first diagnosis during the study period was significantly higher amongst Burmese cats (13.6 years) compared to domestic short and longhaired cats (10.9 years). Further investigations into the apparent predisposition of Burmese cats to diabetes mellitus are indicated.
ObjectiveThe waist-to-height ratio (WHtR) assesses abdominal adiposity and has been proposed to b... more ObjectiveThe waist-to-height ratio (WHtR) assesses abdominal adiposity and has been proposed to be of greater value in predicting obesity-related cardiovascular health risks in children than BMI. The present study aims to develop WHtR cut-offs for overweight and obesity based on the 85th and 95th percentiles for the percentage body fat (%BF) in a cohort of children and adolescents.DesignWaist circumference (WC), height, triceps and subscapular skinfolds were used to calculate WHtR and %BF. Correlations between WHtR and %BF and WHtR/mid-abdominal skinfold were made. Receiver-operating characteristic (ROC) curve analysis was used to select WHtR cut-offs to define overweight and obesity. Subjects were grouped by WHtR cut-offs, and mean values for anthropometry, blood lipids and blood pressure (BP) variables were compared.SettingAustralian primary and secondary schools.SubjectsA total of 2773 male (M) and female (F) subjects of the 1985 Australian Health and Fitness Survey, aged 8–16 ye...
ObjectiveTo investigate which anthropometric measure of overweight status, BMI or waist-to-height... more ObjectiveTo investigate which anthropometric measure of overweight status, BMI or waist-to-height ratio (WHtR), is most closely associated with parents’ perception of their…
To test the importance of the dopamine D2 receptor (DRD2) region in nicotine dependence, 150 smok... more To test the importance of the dopamine D2 receptor (DRD2) region in nicotine dependence, 150 smokers and 228 controls were genotyped for the DRD2 C957T,-141delC and ANKK1 TaqIA polymorphisms (rs6277, rs1799732 and rs1800497, respectively). The-141delC SNP did not show any association but both the C957T and TaqIA SNPs showed association at the allele, genotype, haplotype and combined genotype levels. The 957C/TaqI A1 haplotype was more than 3.5 times as likely to be associated with nicotine dependence compared with the 957T/TaqI A1 haplotype (P = 0.003). Analysis of the combined genotypes of both SNPs revealed that individuals who were homozygous for the 957C-allele (CC) and had either one or two copies of the TaqI A1-allele were 3.3 times as likely to have nicotine dependence compared to all other genotype combinations (P = 0.0003) and that these genotypes accounted for approximately 13% of the susceptibility to nicotine addiction in our population. Our findings suggest that the DRD2 C957T polymorphism and the ANKK1 TaqIA polymorphism are key contributors to the genetic susceptibility of nicotine dependence.
(2010) A DRD2 polymorphism predicts PANSS score variability in schizophrenia patients treated wit... more (2010) A DRD2 polymorphism predicts PANSS score variability in schizophrenia patients treated with antipsychotics.
Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mappi... more Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mapping and has been used with some success for initial disease gene isolation in certain isolated inbred human populations. An understanding of the population history of domestic dog breeds suggests that LD mapping could be routinely utilized in this species for initial genome-wide scans. Such an approach offers significant advantages over traditional linkage analysis. Here, we demonstrate, using canine copper toxicosis in the Bedlington terrier as the model, that LD mapping could be reasonably expected to be a useful strategy in low-resolution, genome-wide scans in pure-bred dogs. Significant LD was demonstrated over distances up to 33.3 cM. It is very unlikely, for a number of reasons discussed, that this result could be extrapolated to the rest of the genome. It is, however, consistent with the expectation given the population structure of canine breeds and, in this breed at least, with the hypothesis that it may be possible to utilize LD in a genomewide scan. In this study, LD mapping confirmed the location of the copper toxicosis in Bedlington terrier gene (CT-BT) and was able to do so in a population that was refractory to traditional linkage analysis. A number of problems are associated with the identification and isolation of disease-causing genes
Equations for target height estimation designed for easy use in the Australian growth clinics are... more Equations for target height estimation designed for easy use in the Australian growth clinics are presented that are based on the standard deviation score method of Hermanussen and Cole. These equations are superior to the commonly used corrected midparental height method as they account for assortative mating and regression to the mean. Simulations using different mating types were performed to compare different methods of target height estimation. While the equations relate directly to growth charts used in Australia, it is noted that neither account for the secular increase in height observed from generation to generation.
Pulse oximetry is used extensively in hospital and home settings to measure arterial oxygen satur... more Pulse oximetry is used extensively in hospital and home settings to measure arterial oxygen saturation (SpO2). Interpretation of the trend and range of SpO2 values observed in infants is currently limited by a lack of reference ranges using current devices, and may be augmented by development of cumulative frequency (CF) reference-curves. This study aims to provide reference oxygen saturation values from a prospective longitudinal cohort of healthy infants. Prospective longitudinal cohort study. Sleep-laboratory. 34 healthy term infants were enrolled, and studied at 2 weeks, 3, 6, 12 and 24 months of age (N=30, 25, 27, 26, 20, respectively). Full overnight polysomnography, including 2 s averaging pulse oximetry (Masimo Radical). Summary SpO2 statistics (mean, median, 5th and 10th percentiles) and SpO2 CF plots were calculated for each recording. CF reference-curves were then generated for each study age. Analyses were repeated with sleep-state stratifications and inclusion of manual...
KPNA3is a gene that has been linked to schizophrenia susceptibility. In this study we investigate... more KPNA3is a gene that has been linked to schizophrenia susceptibility. In this study we investigated the possible association betweenKPNA3variation and schizophrenia. To investigate a wider role ofKPNA3across psychiatric disorders we also analysed major depression, PTSD, nicotine dependent, alcohol dependent and opiate dependent cohorts. Using a haplotype block-based gene-tagging approach we genotyped sixKPNA3single nucleotide polymorphisms (SNPs) in 157 schizophrenia patients, 121 post-traumatic stress disorder patients, 120 opiate dependent patients, 231 alcohol dependent patients, 147 nicotine dependent patients and 266 major depression patients. One SNP rs2273816 was found to be significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level. Major depression was also associated with rs2273816 but only at the allele level. Our study suggests that KPNA3 may contribute to the genetic susceptibility to schizophrenia as well as ot...
International Journal of Environmental Research and Public Health, 2020
This paper presents trends and characteristics for 32,094 suicidal presentations to two Emergency... more This paper presents trends and characteristics for 32,094 suicidal presentations to two Emergency Departments (EDs) in a large health service in Australia across a 10-year period (2009–2018). Prevalence of annual suicidal presentations and for selected groups of consumers (by sex, age groups, and ethnicity) was determined from a machine learning diagnostic algorithm developed for this purpose and a Bayesian estimation approach. A linear increase in the number of suicidal presentations over 10 years was observed, which was 2.8-times higher than the increase noted in all ED presentations and 6.1-times higher than the increase in the population size. Females had higher presentation rates than males, particularly among younger age groups. The highest rates of presentations were by persons aged 15–24. Overseas-born persons had around half the rates of suicidal presentations than Australian-born persons, and Indigenous persons had 2.9-times higher rates than non-Indigenous persons. Of all...
This is the author manuscript accepted for publication and has undergone full peer review but has... more This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as
Journal clubs (JC) may increase clinicians' evidence-based practice (EBP) skills and facilita... more Journal clubs (JC) may increase clinicians' evidence-based practice (EBP) skills and facilitate evidence uptake in clinical practice, however there is a lack of research into their effectiveness in allied health. We investigated the effectiveness of a structured JC that is Tailored According to Research Evidence And Theory (TREAT) in improving EBP skills and practice compared to a standard JC format for allied health professionals. Concurrently, we explored the feasibility of implementing TREAT JCs in a healthcare setting, by evaluating participating clinicians' perceptions and satisfaction. We conducted an explanatory mixed methods study involving a cluster randomised controlled trial with a nested focus group for the intervention participants. Nine JCs with 126 allied health participants were randomly allocated to receive either the TREAT or standard JC format for 1 h/month for 6 months. We conducted pre-post measures of EBP skills and attitudes using the EBP questionnaire...
International Journal of Pediatric Endocrinology, 2015
Hughes et al.: Insulin-like Growth Factor 1 (IGF-1) measurements recorded in the OZGROW database ... more Hughes et al.: Insulin-like Growth Factor 1 (IGF-1) measurements recorded in the OZGROW database and their relation to growth response in children currently being treated with growth hormone.
(2012) A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of ... more (2012) A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset : HapMap tag-single-nucleotide polymorphism analysis. Genetic Testing and Molecular Biomarkers, 16(2), pp. 77-81.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society, Jun 24, 2017
Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very you... more Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). Prospective longitudinal clinical intervention. We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT. At commencement of GHT infants had a lower BMI SDSWHO (-0.88 vs 0.40) than toddlers, while toddlers had a lower height SDSWHO (-1.44 vs -2.09) (both P<0.05). All increased height SDSWHO (2year delta height infants +1.26 SDS, toddlers+1.21 SDS), but infants normalised height sooner, achieving a height SDS of -0.56 within 1year, while toddlers achieved a height SDS of -0.88 in two years. BMI SDSWHO increased, while BMI SDSPWS decreased (both P<0.0001) and remained negative. ...
International Journal of Pediatric Endocrinology, 2015
We aimed to assess the benefits and safety of low dose growth hormone treatment (GHT, 4.5 mg/m 2 ... more We aimed to assess the benefits and safety of low dose growth hormone treatment (GHT, 4.5 mg/m 2 /week) in young children with genetically confirmed Prader-Willi Syndrome (PWS). Methods Data of 20 infants (2-12 months) and 24 toddlers (13-24 months) were collected from the PWS-OZGROW database. The two groups were evaluated for standard deviation scores (SDS) of height (length under age 2 years), weight and BMI using the World Health Organization standards (SDS WHO) and PWS specific BMI (SDS PWS), bone age (BA), insulin-like growth factor-1 (IGF-1) levels, hypotonia, developmental delay, spinal curvature, sleep studies and adverse events over 2 years of GHT.
Aim: (i) To compare the Centers for Disease Control and Prevention (CDC) reference and World Heal... more Aim: (i) To compare the Centers for Disease Control and Prevention (CDC) reference and World Health Organization (WHO) standard/reference for height, particularly with respect to short stature and eligibility for growth hormone (GH) treatment by applying them to contemporary Australian children; (ii) To examine the implications for identifying short stature and eligibility for GH treatment. Methods: Children from the longitudinal Raine Study were serially measured for height from 1991 to 2005 (2-15-year-old girls (660) and boys (702) from Western Australia). In the cross-sectional Australian National Children's Nutrition and Physical Activity survey (2-16-year-old boys (2415) and girls (2379) from all states), height was measured in 2007. Heights were converted to standard deviation scores (SDSs) based on CDC and WHO. Results: Means and standard deviations of height-SDS varied between CDC and WHO definitions and with age and gender within each definition. However, both identified similar frequencies of short stature (<1st centile for GH eligibility), although these were very significantly less than the anticipated 1% (0.1-0.7%) of the Australian cohorts. Mean heights in the Australian cohorts were greater than both the WHO and CDC means. Conclusions: Neither CDC nor WHO height standardisations accurately reflect the contemporary Australian child population. Australian children are taller than the CDC or WHO height means, and significantly less than 1% of Australian children are defined as being short using either CDC or WHO. This study suggests there may be a case for an Australian-specific standard/reference for height.
The frequency of diabetes mellitus is described for cats that received veterinary care from two l... more The frequency of diabetes mellitus is described for cats that received veterinary care from two large feline-only clinics in Brisbane, Australia. Frequency was estimated using period prevalences (the proportion of the population at risk that was affected by diabetes at any point during a specified time period). Of the 12,576 study cats, 93 were affected with diabetes during the 5-year study period, resulting in a 5-year period prevalence of 7.4 per 1000 cats. Period prevalence was significantly higher in Burmese cats (22.4 cats per 1000) than domestic short and longhaired cats (7.6 cats per 1000) and the mean age at first diagnosis during the study period was significantly higher amongst Burmese cats (13.6 years) compared to domestic short and longhaired cats (10.9 years). Further investigations into the apparent predisposition of Burmese cats to diabetes mellitus are indicated.
ObjectiveThe waist-to-height ratio (WHtR) assesses abdominal adiposity and has been proposed to b... more ObjectiveThe waist-to-height ratio (WHtR) assesses abdominal adiposity and has been proposed to be of greater value in predicting obesity-related cardiovascular health risks in children than BMI. The present study aims to develop WHtR cut-offs for overweight and obesity based on the 85th and 95th percentiles for the percentage body fat (%BF) in a cohort of children and adolescents.DesignWaist circumference (WC), height, triceps and subscapular skinfolds were used to calculate WHtR and %BF. Correlations between WHtR and %BF and WHtR/mid-abdominal skinfold were made. Receiver-operating characteristic (ROC) curve analysis was used to select WHtR cut-offs to define overweight and obesity. Subjects were grouped by WHtR cut-offs, and mean values for anthropometry, blood lipids and blood pressure (BP) variables were compared.SettingAustralian primary and secondary schools.SubjectsA total of 2773 male (M) and female (F) subjects of the 1985 Australian Health and Fitness Survey, aged 8–16 ye...
ObjectiveTo investigate which anthropometric measure of overweight status, BMI or waist-to-height... more ObjectiveTo investigate which anthropometric measure of overweight status, BMI or waist-to-height ratio (WHtR), is most closely associated with parents’ perception of their…
To test the importance of the dopamine D2 receptor (DRD2) region in nicotine dependence, 150 smok... more To test the importance of the dopamine D2 receptor (DRD2) region in nicotine dependence, 150 smokers and 228 controls were genotyped for the DRD2 C957T,-141delC and ANKK1 TaqIA polymorphisms (rs6277, rs1799732 and rs1800497, respectively). The-141delC SNP did not show any association but both the C957T and TaqIA SNPs showed association at the allele, genotype, haplotype and combined genotype levels. The 957C/TaqI A1 haplotype was more than 3.5 times as likely to be associated with nicotine dependence compared with the 957T/TaqI A1 haplotype (P = 0.003). Analysis of the combined genotypes of both SNPs revealed that individuals who were homozygous for the 957C-allele (CC) and had either one or two copies of the TaqI A1-allele were 3.3 times as likely to have nicotine dependence compared to all other genotype combinations (P = 0.0003) and that these genotypes accounted for approximately 13% of the susceptibility to nicotine addiction in our population. Our findings suggest that the DRD2 C957T polymorphism and the ANKK1 TaqIA polymorphism are key contributors to the genetic susceptibility of nicotine dependence.
(2010) A DRD2 polymorphism predicts PANSS score variability in schizophrenia patients treated wit... more (2010) A DRD2 polymorphism predicts PANSS score variability in schizophrenia patients treated with antipsychotics.
Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mappi... more Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mapping and has been used with some success for initial disease gene isolation in certain isolated inbred human populations. An understanding of the population history of domestic dog breeds suggests that LD mapping could be routinely utilized in this species for initial genome-wide scans. Such an approach offers significant advantages over traditional linkage analysis. Here, we demonstrate, using canine copper toxicosis in the Bedlington terrier as the model, that LD mapping could be reasonably expected to be a useful strategy in low-resolution, genome-wide scans in pure-bred dogs. Significant LD was demonstrated over distances up to 33.3 cM. It is very unlikely, for a number of reasons discussed, that this result could be extrapolated to the rest of the genome. It is, however, consistent with the expectation given the population structure of canine breeds and, in this breed at least, with the hypothesis that it may be possible to utilize LD in a genomewide scan. In this study, LD mapping confirmed the location of the copper toxicosis in Bedlington terrier gene (CT-BT) and was able to do so in a population that was refractory to traditional linkage analysis. A number of problems are associated with the identification and isolation of disease-causing genes
Equations for target height estimation designed for easy use in the Australian growth clinics are... more Equations for target height estimation designed for easy use in the Australian growth clinics are presented that are based on the standard deviation score method of Hermanussen and Cole. These equations are superior to the commonly used corrected midparental height method as they account for assortative mating and regression to the mean. Simulations using different mating types were performed to compare different methods of target height estimation. While the equations relate directly to growth charts used in Australia, it is noted that neither account for the secular increase in height observed from generation to generation.
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Papers by Ian Hughes