Herbal remedy is one, in which the main therapeutic activity rests on plant metabolites (active p... more Herbal remedy is one, in which the main therapeutic activity rests on plant metabolites (active principle), which it contains. The effectiveness of plant barks on mouth microbes using all available plants (total 13) in the garden of Divisional Public School, Rawalpindi was tested. The bark samples were dried, grinded and centrifuged to collect clear supernatant in sterilized tubes. Five discs made of Whatmann paper were dipped in each freshly extracted bark extract to be used for its antimicrobial activity against mouth microbes. Mouth microflora was cultured in nutrient agar and incubated overnight at 37 o C. Then five pre-soaked discs from each aqueous extract were placed at equal distance from each other in pre-incubated agar plate containing mouth microflora. The plates were incubated overnight at 37 o C and next day measured the zones of inhibition. The barks of some these plants showed significant antimicrobial activities against mouth microflora. Callistiman lanceolatus (bottle brush) showed highest level of activity and its zone of inhibition was quite clear and large (8 mm), followed by Zizypus jujuba (bairy) showing clear zones of inhibition (6 mm), Syzigiun cuminii (Jaman) and Eriobotrya japonica (Lokat) (4mm) each, and Mangifera indica (Aam) and Eucalptus alba (Safaida) were positive with 2 mm zone of inhibition. The least activity was observed in the case of Melia azedarch (Adraik)-a very common plant in this region, with maximum activity 1 mm. The aqueous extracts from remaining six plant species showed no activity. Two positive controls were also used, one was broad-spectrum antibiotic (Ampicillin) and other was common toothpaste (Colgate). Plant barks are good source of valuable therapeutic agents as they have active components that can kill/retard the activity of microflora of our mouth cavity.
Tuberculosis (TB) is a fatal and contagious disease. The annual death toll occurring from TB is a... more Tuberculosis (TB) is a fatal and contagious disease. The annual death toll occurring from TB is approximately 2 million according to World Health Organization (WHO). The removal of disease from global face needs immediate treatment for which early diagnosis is prerequisite. Existing tests for the diagnosis of TB are not efficient and robust. In the present study Mycobacterium tuberculosis specific six antigens namely cfp-10, esat-6 and hspx, along with three antigens which are components of immunodominant mycolyl transferases ag85a, ag85b, ag85c were expressed and purified to evaluate their potential use in immunoassays like Western blotting and multiplex microbead immunoassay. Protein expression of all six antigenic genes was optimized for time and different concentrations of inducer isopropyl β-D-1-thiogalactopyranoside. Protein products were confirmed by Western blotting and purified through immobilized metal affinity chromatography (IMAC) technique using columns having affinity for His-tag. Each fluorescently labeled set of microbeads were coated with one of the M. tuberculosis specific antigenic proteins and later on human plasma samples of reactivated TB patients along with healthy BCG as well as tuberculin skin test negative controls were tested for presence of antibodies against these antigenic proteins individually in a multiplex format. The results were generated in median fluorescence intensity form which detected antibodies against M. tuberculosis specific antigenic proteins only in reactivated TB patients. This system detected antibodies against four antigenic proteins in 100% of reactivated TB patients. Thus, M. tuberculosis antigens described in this study seem to have purified at the level to be used in the development of immunoassays for the detection of M. tuberculosis infection in TB patients of different categories like active and latent TB.
The forskolin-induced steroidogenic block of testosterone production residing beyond pregnenolone... more The forskolin-induced steroidogenic block of testosterone production residing beyond pregnenolone synthesis in rat Leydig cells was localized to the level of the 17-hydroxysteroid dehydrogenase (17HSD) reaction in this study. The use of forskolin analogs that discriminate between the diterpene's inhibitory effect on the glucose transporter(s) (1,9-dideoxyforskolin) and its activation of adenylate cyclase (6-aminoethyl carbamyl forskolin) revealed that the block is related to inhibition of glucose transporter(s). 1,9-Dideoxyforskolin, but not 6-aminoethyl carbamyl forskolin, caused a significant inhibition of basal and hCG-stimulated testosterone production with accumulation of androstenedione. Glucose-deficient media produced the same metabolic block in the absence of forskolin, with a significant reduction in 17HSD activity and increases in the apparent K m for androstenedione. In contrast, metabolic steps before testosterone formation were not affected. Glucose-induced 17HSD activation was Materials and Methods Cell preparation, incubation, and assays Leydig cells were prepared from adult male Sprague-Dawley rats by collagenase dispersion and purified by centrifugal elutriation (12). The
In this study the restriction endonuclease analysis (REA) technique was used for the comparison o... more In this study the restriction endonuclease analysis (REA) technique was used for the comparison of field isolates and vaccinal strain of Pasteurella multocida using Hha-I enzyme. On the basis of DNA finger prints, extent of homology among the field isolates and the vaccinal strain was observed. The study has provided the clear evidence that eight isolates of P. multocida used were serologically different but genotypically all were same with the restriction enzyme used.
The effect of three anticalmodulin drugs, prepared in this la~oratory and a commercially availabl... more The effect of three anticalmodulin drugs, prepared in this la~oratory and a commercially available drug Mastoparan, was tested on the secretion (or synthesis) of testosterone in hCG stimulated Leydig cells. The results of the use of drugs RN-IV A, RN-IV Band RN-IV C indicated that hCG (10 ng/ml), ObcAMP (0.1 mM) and cholera toxin (2 J..Lg/ml)-stimulated testosterone production was inhibited in Leydig cells in a dose dependent manner. In hCG stimulated cells, the 1050 for drug RN-IV A was 2 J..LM, for drug RN-IV B was 25 J..LM and for drug RN-IV C was 130 J..LM. Based on 1050 the most effective drug was RN-IV A. Maximum inhibition of testosterone production was obtained at a concentration of 20 J..LM for drug RN-IV A, 150 J..LM for drug RN-IV Band 200 J..LM for drug RN-IV C. Further extensive experiments with drug RN-IV B showed that (a) at 100 J..LM concentration the drug does not impair the binding of receptor with 125 1 hCG, (b) the cAMP accumulation was prevented in a dose dependent manner reaching a minimal of 1.1 pM at 50 J..LM, compared with 3.5 pM in hCG (10 ng/ml) stimulated cells. The drug RN-IV B at a concentration of 100 J..LM, which failed to prevent conversion of exogenous pregnenolone or progesterone to testosterone, otherwise caused complete inhibition of testosterone production in hCG stimulated cells. Mastoparan also inhibited testosterone production in hCG stimulated cells in a dose dependent manner. A much higher dose (75 J..LM concentration) of Mastoparan was required for complete inhibition of testosterone production than is usually claimed (nanomolar concentration).
Background: Hepatitis B virus (HBV) genotype and its role in disease progression and patients' re... more Background: Hepatitis B virus (HBV) genotype and its role in disease progression and patients' response to antiviral treatment, is not well studied in Pakistan. This comprehensive study was aimed to determine the distribution of HBV genotypes in Pakistan and their possible association with phases of HBV infection. Methods: A total of 840 HBsAg positive samples was collected and tested for HBV DNA quantity. Samples below 100 IU/ml were excluded from the study. A total of 715 samples representing all the six parts of the country were genotyped by type specific primer PCR method. Clinical data of only 384 patients was compared as the remaining 332 were either receiving antiviral treatment or their infection phase was not confirmed. Results: Genotype D was found in 509 samples (71.2 %), genotype A in 55 samples (7.7 %) and mixed infection with genotypes A and D in 124 samples (17.3 %). Genotypes B, C and E were identified in less than 1 % of the total samples. Genotype A, D and their mixture (A + D) were compared for severity of HBV infection. Significant differences were not found in distribution of HBV genotypes among different disease stages. Conclusion: HBV genotype D was the predominant infection in all study areas of Pakistan followed by mixed genotypes infection (A + D) whereas genotype A has 10 times lower prevalence than genotype D. Genotypes B, C, E and F altogether make only 1.5 % of the prevalence. Genotype do not appears to show the severity of liver disease.
17-Hydroxysteroid dehydrogenase (17HSD), the enzyme that catalyzes the final step of testostero... more 17-Hydroxysteroid dehydrogenase (17HSD), the enzyme that catalyzes the final step of testosterone biosynthesis in the testis, was cloned from a rat Leydig cell complementary DNA library to gain insights into the functional requirements, activation mechanisms, and molecular regulation. The 17HSD complementary DNA encoded 306 amino acids (molecular mass of 33.7 kDa) and displayed 75% and 85% amino acid sequence homology to the human and mouse 17HSD type III enzymes, respectively. Northern analysis revealed a single 1.4-kb messenger RNA (mRNA) species in rat Leydig cells, whereas ovarian mRNA was detected only by RT-PCR amplification. The cloned 17HSD expressed in mammalian cell lines specifically catalyzed the reductive reaction in androgen formation with androstenedione as the preferred substrate. This reaction was significantly reduced in the absence of glucose. Expression of the endogenous 17HSD gene in rat Leydig cells was inhibited by a single dose of hCG in vivo, with maximum reduction of steady state mRNA levels at 24 h and recovery at 9 days. Such agonist-induced down-regulation of 17HSD expression, which preceded the marked reduction of LH receptors, resulted from changes at the transcriptional level and was accompanied by loss of enzymatic activity. These studies have demonstrated a glucose requirement for optimal activity of the enzyme in vitro and for a role of gonadotropin in regulating the expression of 17HSD gene in vivo. Cloning of the 17HSD type III enzyme from rat Leydig cells will facilitate further investigation of the molecular regulation of its activity in the testis.
Hepatitis B virus has been classified into eight genotypes from A to H which have variety in geog... more Hepatitis B virus has been classified into eight genotypes from A to H which have variety in geographical distribution. HBV/D is reported to be the most prevalent genotype in Pakistan. Sub genotypes D1 and D3 were reported in a study from Karachi. Present study was designed to investigate the genotypes and sub-genotypes of HBV with sequencing of S gene fragment as well as complete viral genome of samples from Islamabad, Pakistan. A total of 22 HBV sample were genotyped by type specific primer PCR method. Complete viral genome of 4 samples and the S gene fragment of all samples was subjected to direct sequencing. Genotypes and sub-genotypes were confirmed by phylogenetic analyses of the sequences. Employing type specific primer PCR method, 14 (63.6%) samples were detected with HBV/D infection while a mix infection with HBV/A and HBV/D was detected in 8 (36.4%) samples. However on direct sequencing of S gene fragment, all 20 of the sequenced samples were identified as only genotype D ...
The aim of the present study was to assess the DNA protection ability, free radicals scavenging a... more The aim of the present study was to assess the DNA protection ability, free radicals scavenging activity, and phytochemical constituents of peel extracts of various species of citrus. Results showed the presence of carbohydrates, amino acids, glycosides, tannins, steroids and alkaloids. DNA protection assay showed maximum protection with methanolic extracts of peels of C. limon, C. reticulata, C. aurantium and C. sinensis as compared to C. limetta which showed less protection. DPPH assay used to assess the antioxidants showed the highest activity in the methanolic extract of peels of C. reticulata and C. aurantium with 75% and 86% respectively at 10 mg/ml. It is therefore concluded that C. limon, C. reticulata, C. aurantium and C. sinensis in terms of DNA protection and C. reticulata and C. aurantium in terms of free radicals scavenging activity are the best ones and these are the potential candidates to be used for further studies.
Background: Rheumatic heart disease (RHD) is an inflammatory autoimmune cardiovascular disorder. ... more Background: Rheumatic heart disease (RHD) is an inflammatory autoimmune cardiovascular disorder. The disease is highly prevalent in both urban (22 per 1000 individuals) and rural (5.7 per 1000 individuals) areas of Pakistan. The main purpose of this research work was to examine the role of two most widely studied genes, MEFV and TNF in the susceptibility of RHD in Pakistani patients. Methods and Materials: In total 360 samples, including 156 clinically diagnosed RHD patients and 204 healthy controls were included in the study. Single strand conformational polymorphism (SSCP) and direct DNA sequencing approach were used to identify the genetic changes in TNF exons and hot spots of MEFV gene. Results: No genetic variation in the two genes was detected in this study except a novel mutation (g.G2,096A) in exon 2 of MEFV gene. Computational analysis revealed that this mutation (p.S179N) severely affect the threedimensional structure of the protein and thus probably has a pathogenic role. However, this mutation was identified in two patients only. Conclusion: Hence, contribution of this mutation is expected to be very small in Pakistani patients. Our results showed a novel mutation with pathogenic effect in a very small proportion of the RHD patients in Pakistan. However, majority of the patients may have mutation outside the hot spot region of MEFV gene or there are other susceptibility factors that are contributing toward high prevalence of RHD in Pakistan. Therefore, it is important to screen the complete MEFV gene and other genetic susceptibility factors to understand etiology of RHD and thus manage its increasing incidence.
Herbal remedy is one, in which the main therapeutic activity rests on plant metabolites (active p... more Herbal remedy is one, in which the main therapeutic activity rests on plant metabolites (active principle), which it contains. The effectiveness of plant barks on mouth microbes using all available plants (total 13) in the garden of Divisional Public School, Rawalpindi was tested. The bark samples were dried, grinded and centrifuged to collect clear supernatant in sterilized tubes. Five discs made of Whatmann paper were dipped in each freshly extracted bark extract to be used for its antimicrobial activity against mouth microbes. Mouth microflora was cultured in nutrient agar and incubated overnight at 37 o C. Then five pre-soaked discs from each aqueous extract were placed at equal distance from each other in pre-incubated agar plate containing mouth microflora. The plates were incubated overnight at 37 o C and next day measured the zones of inhibition. The barks of some these plants showed significant antimicrobial activities against mouth microflora. Callistiman lanceolatus (bottle brush) showed highest level of activity and its zone of inhibition was quite clear and large (8 mm), followed by Zizypus jujuba (bairy) showing clear zones of inhibition (6 mm), Syzigiun cuminii (Jaman) and Eriobotrya japonica (Lokat) (4mm) each, and Mangifera indica (Aam) and Eucalptus alba (Safaida) were positive with 2 mm zone of inhibition. The least activity was observed in the case of Melia azedarch (Adraik)-a very common plant in this region, with maximum activity 1 mm. The aqueous extracts from remaining six plant species showed no activity. Two positive controls were also used, one was broad-spectrum antibiotic (Ampicillin) and other was common toothpaste (Colgate). Plant barks are good source of valuable therapeutic agents as they have active components that can kill/retard the activity of microflora of our mouth cavity.
Tuberculosis (TB) is a fatal and contagious disease. The annual death toll occurring from TB is a... more Tuberculosis (TB) is a fatal and contagious disease. The annual death toll occurring from TB is approximately 2 million according to World Health Organization (WHO). The removal of disease from global face needs immediate treatment for which early diagnosis is prerequisite. Existing tests for the diagnosis of TB are not efficient and robust. In the present study Mycobacterium tuberculosis specific six antigens namely cfp-10, esat-6 and hspx, along with three antigens which are components of immunodominant mycolyl transferases ag85a, ag85b, ag85c were expressed and purified to evaluate their potential use in immunoassays like Western blotting and multiplex microbead immunoassay. Protein expression of all six antigenic genes was optimized for time and different concentrations of inducer isopropyl β-D-1-thiogalactopyranoside. Protein products were confirmed by Western blotting and purified through immobilized metal affinity chromatography (IMAC) technique using columns having affinity for His-tag. Each fluorescently labeled set of microbeads were coated with one of the M. tuberculosis specific antigenic proteins and later on human plasma samples of reactivated TB patients along with healthy BCG as well as tuberculin skin test negative controls were tested for presence of antibodies against these antigenic proteins individually in a multiplex format. The results were generated in median fluorescence intensity form which detected antibodies against M. tuberculosis specific antigenic proteins only in reactivated TB patients. This system detected antibodies against four antigenic proteins in 100% of reactivated TB patients. Thus, M. tuberculosis antigens described in this study seem to have purified at the level to be used in the development of immunoassays for the detection of M. tuberculosis infection in TB patients of different categories like active and latent TB.
The forskolin-induced steroidogenic block of testosterone production residing beyond pregnenolone... more The forskolin-induced steroidogenic block of testosterone production residing beyond pregnenolone synthesis in rat Leydig cells was localized to the level of the 17-hydroxysteroid dehydrogenase (17HSD) reaction in this study. The use of forskolin analogs that discriminate between the diterpene's inhibitory effect on the glucose transporter(s) (1,9-dideoxyforskolin) and its activation of adenylate cyclase (6-aminoethyl carbamyl forskolin) revealed that the block is related to inhibition of glucose transporter(s). 1,9-Dideoxyforskolin, but not 6-aminoethyl carbamyl forskolin, caused a significant inhibition of basal and hCG-stimulated testosterone production with accumulation of androstenedione. Glucose-deficient media produced the same metabolic block in the absence of forskolin, with a significant reduction in 17HSD activity and increases in the apparent K m for androstenedione. In contrast, metabolic steps before testosterone formation were not affected. Glucose-induced 17HSD activation was Materials and Methods Cell preparation, incubation, and assays Leydig cells were prepared from adult male Sprague-Dawley rats by collagenase dispersion and purified by centrifugal elutriation (12). The
In this study the restriction endonuclease analysis (REA) technique was used for the comparison o... more In this study the restriction endonuclease analysis (REA) technique was used for the comparison of field isolates and vaccinal strain of Pasteurella multocida using Hha-I enzyme. On the basis of DNA finger prints, extent of homology among the field isolates and the vaccinal strain was observed. The study has provided the clear evidence that eight isolates of P. multocida used were serologically different but genotypically all were same with the restriction enzyme used.
The effect of three anticalmodulin drugs, prepared in this la~oratory and a commercially availabl... more The effect of three anticalmodulin drugs, prepared in this la~oratory and a commercially available drug Mastoparan, was tested on the secretion (or synthesis) of testosterone in hCG stimulated Leydig cells. The results of the use of drugs RN-IV A, RN-IV Band RN-IV C indicated that hCG (10 ng/ml), ObcAMP (0.1 mM) and cholera toxin (2 J..Lg/ml)-stimulated testosterone production was inhibited in Leydig cells in a dose dependent manner. In hCG stimulated cells, the 1050 for drug RN-IV A was 2 J..LM, for drug RN-IV B was 25 J..LM and for drug RN-IV C was 130 J..LM. Based on 1050 the most effective drug was RN-IV A. Maximum inhibition of testosterone production was obtained at a concentration of 20 J..LM for drug RN-IV A, 150 J..LM for drug RN-IV Band 200 J..LM for drug RN-IV C. Further extensive experiments with drug RN-IV B showed that (a) at 100 J..LM concentration the drug does not impair the binding of receptor with 125 1 hCG, (b) the cAMP accumulation was prevented in a dose dependent manner reaching a minimal of 1.1 pM at 50 J..LM, compared with 3.5 pM in hCG (10 ng/ml) stimulated cells. The drug RN-IV B at a concentration of 100 J..LM, which failed to prevent conversion of exogenous pregnenolone or progesterone to testosterone, otherwise caused complete inhibition of testosterone production in hCG stimulated cells. Mastoparan also inhibited testosterone production in hCG stimulated cells in a dose dependent manner. A much higher dose (75 J..LM concentration) of Mastoparan was required for complete inhibition of testosterone production than is usually claimed (nanomolar concentration).
Background: Hepatitis B virus (HBV) genotype and its role in disease progression and patients' re... more Background: Hepatitis B virus (HBV) genotype and its role in disease progression and patients' response to antiviral treatment, is not well studied in Pakistan. This comprehensive study was aimed to determine the distribution of HBV genotypes in Pakistan and their possible association with phases of HBV infection. Methods: A total of 840 HBsAg positive samples was collected and tested for HBV DNA quantity. Samples below 100 IU/ml were excluded from the study. A total of 715 samples representing all the six parts of the country were genotyped by type specific primer PCR method. Clinical data of only 384 patients was compared as the remaining 332 were either receiving antiviral treatment or their infection phase was not confirmed. Results: Genotype D was found in 509 samples (71.2 %), genotype A in 55 samples (7.7 %) and mixed infection with genotypes A and D in 124 samples (17.3 %). Genotypes B, C and E were identified in less than 1 % of the total samples. Genotype A, D and their mixture (A + D) were compared for severity of HBV infection. Significant differences were not found in distribution of HBV genotypes among different disease stages. Conclusion: HBV genotype D was the predominant infection in all study areas of Pakistan followed by mixed genotypes infection (A + D) whereas genotype A has 10 times lower prevalence than genotype D. Genotypes B, C, E and F altogether make only 1.5 % of the prevalence. Genotype do not appears to show the severity of liver disease.
17-Hydroxysteroid dehydrogenase (17HSD), the enzyme that catalyzes the final step of testostero... more 17-Hydroxysteroid dehydrogenase (17HSD), the enzyme that catalyzes the final step of testosterone biosynthesis in the testis, was cloned from a rat Leydig cell complementary DNA library to gain insights into the functional requirements, activation mechanisms, and molecular regulation. The 17HSD complementary DNA encoded 306 amino acids (molecular mass of 33.7 kDa) and displayed 75% and 85% amino acid sequence homology to the human and mouse 17HSD type III enzymes, respectively. Northern analysis revealed a single 1.4-kb messenger RNA (mRNA) species in rat Leydig cells, whereas ovarian mRNA was detected only by RT-PCR amplification. The cloned 17HSD expressed in mammalian cell lines specifically catalyzed the reductive reaction in androgen formation with androstenedione as the preferred substrate. This reaction was significantly reduced in the absence of glucose. Expression of the endogenous 17HSD gene in rat Leydig cells was inhibited by a single dose of hCG in vivo, with maximum reduction of steady state mRNA levels at 24 h and recovery at 9 days. Such agonist-induced down-regulation of 17HSD expression, which preceded the marked reduction of LH receptors, resulted from changes at the transcriptional level and was accompanied by loss of enzymatic activity. These studies have demonstrated a glucose requirement for optimal activity of the enzyme in vitro and for a role of gonadotropin in regulating the expression of 17HSD gene in vivo. Cloning of the 17HSD type III enzyme from rat Leydig cells will facilitate further investigation of the molecular regulation of its activity in the testis.
Hepatitis B virus has been classified into eight genotypes from A to H which have variety in geog... more Hepatitis B virus has been classified into eight genotypes from A to H which have variety in geographical distribution. HBV/D is reported to be the most prevalent genotype in Pakistan. Sub genotypes D1 and D3 were reported in a study from Karachi. Present study was designed to investigate the genotypes and sub-genotypes of HBV with sequencing of S gene fragment as well as complete viral genome of samples from Islamabad, Pakistan. A total of 22 HBV sample were genotyped by type specific primer PCR method. Complete viral genome of 4 samples and the S gene fragment of all samples was subjected to direct sequencing. Genotypes and sub-genotypes were confirmed by phylogenetic analyses of the sequences. Employing type specific primer PCR method, 14 (63.6%) samples were detected with HBV/D infection while a mix infection with HBV/A and HBV/D was detected in 8 (36.4%) samples. However on direct sequencing of S gene fragment, all 20 of the sequenced samples were identified as only genotype D ...
The aim of the present study was to assess the DNA protection ability, free radicals scavenging a... more The aim of the present study was to assess the DNA protection ability, free radicals scavenging activity, and phytochemical constituents of peel extracts of various species of citrus. Results showed the presence of carbohydrates, amino acids, glycosides, tannins, steroids and alkaloids. DNA protection assay showed maximum protection with methanolic extracts of peels of C. limon, C. reticulata, C. aurantium and C. sinensis as compared to C. limetta which showed less protection. DPPH assay used to assess the antioxidants showed the highest activity in the methanolic extract of peels of C. reticulata and C. aurantium with 75% and 86% respectively at 10 mg/ml. It is therefore concluded that C. limon, C. reticulata, C. aurantium and C. sinensis in terms of DNA protection and C. reticulata and C. aurantium in terms of free radicals scavenging activity are the best ones and these are the potential candidates to be used for further studies.
Background: Rheumatic heart disease (RHD) is an inflammatory autoimmune cardiovascular disorder. ... more Background: Rheumatic heart disease (RHD) is an inflammatory autoimmune cardiovascular disorder. The disease is highly prevalent in both urban (22 per 1000 individuals) and rural (5.7 per 1000 individuals) areas of Pakistan. The main purpose of this research work was to examine the role of two most widely studied genes, MEFV and TNF in the susceptibility of RHD in Pakistani patients. Methods and Materials: In total 360 samples, including 156 clinically diagnosed RHD patients and 204 healthy controls were included in the study. Single strand conformational polymorphism (SSCP) and direct DNA sequencing approach were used to identify the genetic changes in TNF exons and hot spots of MEFV gene. Results: No genetic variation in the two genes was detected in this study except a novel mutation (g.G2,096A) in exon 2 of MEFV gene. Computational analysis revealed that this mutation (p.S179N) severely affect the threedimensional structure of the protein and thus probably has a pathogenic role. However, this mutation was identified in two patients only. Conclusion: Hence, contribution of this mutation is expected to be very small in Pakistani patients. Our results showed a novel mutation with pathogenic effect in a very small proportion of the RHD patients in Pakistan. However, majority of the patients may have mutation outside the hot spot region of MEFV gene or there are other susceptibility factors that are contributing toward high prevalence of RHD in Pakistan. Therefore, it is important to screen the complete MEFV gene and other genetic susceptibility factors to understand etiology of RHD and thus manage its increasing incidence.
Uploads
Papers by Azra Khanum