GENETICS IN THE 3RD MILLENNIUM
Year:2010 | Volume:8 | Issue:1|Papers Count:12

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 StripAssay 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 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.

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the b-Fibrinogen -455 G/A polymorphism responding for cardiovascular disease (CVD) in the general Iranian population using a novel technique reverse hybridization StripAssay 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.

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 StripAssay 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 MTHFRAl298C in our study population (0.42), was remarkably high. Mutant MTHFRAl298C 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.

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 StripAssay 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.

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the PAl-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 teststrip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequency of mutant PAl-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 PAl-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.

In spite of tiny deletion of chromosomal segment in microdeletion diseases; the affected individual represents severe clinical manifestation. The classical cytogenetic techniques including high resolution are unable to clarify the deleted segment. It is worthy performing FISH study for clinically suspected patients. The result of 39 blood samples and two amniotic fluid samples studied by FISH of peripheral blood (1-24 years old) and two amniotic fluid including: peripheral blood samples clinically suspected for Angelman syndrome, 15 cases for Prader-Willi syndrome and five children PB and two amniotic fluid for PWS/ AS syndrome are as follows: Seven samples of Angelman syndrome, three cases of Prader-Willi syndrome, and 2 cases of other samples; totally, 12 of 40 (30%) were positive for deletion of critical segment 15 (q11-q 13), confirming the clinical diagnosis. One blood sample for Angelman syndrome did not growth.

Cockayne syndrome is a very rare genetic disorder with a recessive autosomal inheritance. The disease is characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. We report here an Iranian family with one affected child who is suffering from Cockayne syndrome. Cardinal features were failure to thrive, short stature, premature aging, microcephaly, dysarthric speech, photosensivity, sunken eyes, and dental caries. There was no blindness or deafness, and the fundus examination showed tapetoretinal degeneration. Direct sequencing of all coding sequences of CSA and CSB genes, showed a novel mutation (c.2382+57G>T) in intron 10 of CSB that was not reported before. This variation might perturb splicing in CSB. However to prove the pathogenicity of this mutation mRNA analysis on fibroblast is planned to be investigated.

Williams syndrome is one of mental retardation reasons. Most cases are sporadic but parent to child transmission has been reported. Patients have peculiar face, namely "elfin facies", with periorbital fullness, epicanthal folds, depressed nasal bridge, anteverted nares, and full lips. Cardiac malformation are supravalvular aortic stenosis, pulmonic valvular stenosis, ventricular and arterial septal defect. IQ is ranged from 40 to 80. Deletion within chromosome 7q11.23 is the reason in both sporadic and inherited cases. We are reporting a 3-year old boy, with mental retardation, periorbital fullness, full lips and cardiac malformation. In FISH studies, deletion of short arm of chromosome 7, confirmed the diagnosis of Williams syndrome.

In the past decade, six monogenic forms of Parkinson disease have been diagnosed. Identification of these genes, has revolutionized the previous view of neorogenetic etiology of Parkinson disease. The most prevalent genes are LRRK2 and PARKIN. The main focus of recent researches is understanding the function of these genes and involved proteins in hereditary Parkinson diseae, which helps better understanding of pathophysiologyic mechanisms involved in Parkinson disease. Unfortunately genetic tests for Parkinson disease are too expensive and don't predict the course of disease and also don't paly significant role in family planning. There is no neuroprotective treatment for PD, so genetic tests don't affect PD treatment. However, genetic tests are useful for diagnosing at risk groups and also better understanding preclinical changes and compensatory mechanisms, which are useful for discovery of neuroprotective drugs and strategies.