RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the Factor V Leiden polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes. The prevalences of mutant Factor V Leiden [1.2%] in our cohort was below previously published figures on the population of Tehran [2.7%]. Here we describe the distribution of mutant allele FV Leiden in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the most comprehensive study to date with respect to thrombophilic gene polymorphism in Iran
RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study, in order to assess the distribution of the ACE Ins/Del polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a test strip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequencies of mutant ACE D/I polymorphism [0.62] was remarkably high. Mutant ACE D/I polymorphism in Iran occurred as high as East Mediterranean populations, and exceeded the lower frequencies known from Europe, India and most of Asia. Here we describe the distribution of mutant allele ACE D/I polymorphism in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to ACE D/I gene polymorphism in Iran
RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the beta-Fibrinogen-455 G/A polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequency of mutant FGB-455 G/A [0.22] is comparable to that of Europeans, but exceeded the much lower frequencies known from the most of Asia. Here we describe the distribution of mutant allele FGB-455 G/A in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran
RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the MTHFR A1298C polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes for each mutation. The prevalence of mutant MTHFR A1298C in our study population [0.42], was remarkably high. Mutant MTHFR A1298C in Iran occurred less frequently than among Europeans, but exceeded the much lower frequencies known from India and most of Asia. Here we describe the distribution of mutant allele MTHFR A1298C in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran
RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the Prothrombin G20210A polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes for each mutation. The allele frequencies of mutant Prothrombin G20210A [0.005] in our cohort were below previously published figures on the population of Tehran [1.5]. Here we describe the distribution of mutant allele Prothrombin G20210A in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the most comprehensive study to date with respect to thrombophilic gene polymorphism in Iran
RESUMEN
Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the PAI-1 4G/5G polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a test strip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequency of mutant PAI-1 4G/5G [0.45] is comparable to that of Europeans, but exceeded the much lower frequencies known from the most of Asia. Here we describe the distribution of mutant allele PAI-1 4G/5G in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran
RESUMEN
Thalassemias are the most common hereditary disease in Iran, resulting from defects in synthesis of one or more hemoglobin [Hb] subunits. The majority of patients suffer from beta-thalassemia [thal], but cases with microcytic hypochromic anemia and normal electrophoretic patterns are suspected to have alpha or silent beta-thalassemia. A family from the northern part of Iran, an area where thalassemias, are highly prevalent was referred to us for prenatal diagnosis. The hematological data of the father indicated a pattern of beta-thal minor. Reverse hybridization analysis for the most common beta-globin mutations identified IVS-II-1 [G-A] in the heterozygous state. The maternal laboratory data indicated a case more compatible with alpha-thal. Iron deficient anemia was ruled out, and common alpha-thal point mutations and deletions were investigated. As no mutation was detected, globin chain synthesis was performed and showed an alpha/beta chain ratio of 2.1, that was in the range of beta-thal minor. DNA sequencing of the entire beta-globin gene identified a heterozygous GTG-GGG [Val-Gly] mutation at codon 126, also known as Hb Dhonburi [Neapolis]. Prenatal diagnosis of the fetal DNA showed the absence of the IVS-II-1 and codon 126 anomalies. This result demonstrates the importance of screening of individuals with mild microcytic hypochromic anemia for both alpha- and silent beta-thal mutations