[Prevalence of anti-HCV antibody and related risk factors among bleeding disorder patients in Yazd province of Iran]

Inherited bleeding disorder is a disease due to deficiency in clotting factors or platelets. Replacement therapy of unscreened blood and blood products or unviricidal concentrated clotting factors would expose these patients to risk of acquired hepatitis C. The aim of this study was to determine the seroprevalence of hepatitis C virus and related risk factors among bleeding disorder patients in Yazd province. This cross-sectional study was performed in Yazd province in summer 2006 using census method. Following data collection through questionnaires, blood samples were taken from 77 [82.8%] patients. Plasma samples were tested for the presence of anti-HCV antibody via a third-generation ELISA kit. To exclude false positive cases, ELISA positive samples were re-tested by the confirmatory third generation RIBA test. The assessment of risk factors was done from the information analysis of both the questionnaires and test results by Chi-square test and multivariate logistic regression analysis, using SPSS 11.5 statistic software. The frequency of anti-HCV antibody was found in 38 [49.4%] patients. Chi-square test showed a statistically significant relationship between the severe form of the disease [in terms of blood products needed] [P<0.001], treatment duration of more than 121 months [P<0.001] and family history to HCV [P<0.05] antibody positivity. Successful execution of the screening of the blood and blood products as well as more scrutiny in preparing concentrated factors have been led to a remarkable decrease in the new infections among the recipients of these products in Yazd province

[Study of LDL receptor gene mutations in patients with familial hypercholesterolemia in Chaharmahal va Bakhtiari province]

Familial hypercholesterolemia is an autosomal dominant inherited disorder, characterized by increased level of low-density lipoprotein cholesterol and lipid accumulation in tendons and arteries. It can cause premature atherosclerosis and increased risk of coronary heart disease [CHD]. Familial hypercholesterolemia is caused mainly by mutations in low-density lipoprotein receptor [LDLR] gene. The aim of this study was to analyze the LDLR gene mutations in a group of patients from Chaharmahal va Bakhtiari province. In this descriptive-lab based study, 57 suspected FH patients were screened for mutations in promoter and exons 1,3,5,11,13,15,16,17 and 18 of LDLR gene using PCR-SSCP strategy. Two different LDLR gene variations, including heterozygote mutation 283T>A and polymorphism 1959T>C, were identified in 1 and 9 FH Families studied, respectively. We conclude that LDLR gene mutation may not be the major cause of FH in the population studied and the cause of FH in Chaharmahal va Bakhtiari province remains to be detected in other loci or genes

Detection of mutations in exons 5-8 of the P53 gene in gastric cancer samples using PCR-SSCP in Chaharmahal va Bakhtiari province, 2006-2007

Gastric cancer is the second cause of cancer death world wide. Genetic factors including oncogens and tumor suppressor genes are always contributed in progression of this cancer. The P53 tumor suppressor gene has a broad role in the cell such as programmed cell death and stop cell replicating damaged DNA. Mutations in the P53 gene, which are frequently seen in human gastric cancer, impair its tumor suppression function. The aim of this study was to determine the P53 gene mutations in gastric cancer specimens in Chaharmahal va Bakhtiari Province. In this descriptive-lab based study, we investigated the P53 gene mutations in exons 5-8 in 38 paraffin embedded gastric cancer specimens. DNA was extracted following the standard phenol chloroform protocol. The P53 gene mutations were determined using PCR-SSCP procedure. Band shifts were detected in all positive controls examined. However, no shifted band was detected in samples from gastric cancer patients tested. The results of this study demonstrated that association between P53 gene mutations and gastric cancer is very low in Chaharmahal va Bakhtiari province. However, we have examined a limited number of 38 gastric samples and more samples are needed to be investigated to unravel the contribution of P53 gene mutations leading to gastric cancer in this province

Molecular pathology of 6 novel GJB2 allelic variants detected in familial and sporadic Iranian non syndromic hearing loss cases

Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many populations. A very wide spectrum of GJB2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. In this study, we have provided genetic evidence on the pathogenicity of our previously reported novel GJB2 allelic variants. The pathogenic role of GJB2 allelic variants were assessed using co segregation of each allelic variant with hearing loss in family members, absence of the allelic variants in control populations, coexistence with a second GJB2 mutation, nature of the amino acid substitution and evolutionary conservation of the appropriate amino acid. The GJB2 allelic variants including 363delC, 327delGGinsA, H16R and G200R have been co segregated with autosomal recessive non syndromic hearing loss in five families and are not found in control subjects. The G130V and K102Q were found in heterozygous state in two deaf individuals. G130V results in an exchange a residue highly conserved among all the connexins but was found with a rate of 1% in control subjects and K102Q results in an exchange a residue not conserved among all the connexins and not identified in control subjects. We conclude that, 363delC, 327delGGinsA, H16R and G200R may be pathogenic. However, the pathogenicity and inheritance of K102Q and G130V can not be assessed clearly and remains to be identified