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Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator

Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system. It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of...

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Autores principales: Kholghi Oskooei, Vahid, Esmaeili Dooki, Mohammad Reza, Akhavan-Niaki, Haleh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920498/
https://www.ncbi.nlm.nih.gov/pubmed/24551767
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author Kholghi Oskooei, Vahid
Esmaeili Dooki, Mohammad Reza
Akhavan-Niaki, Haleh
author_facet Kholghi Oskooei, Vahid
Esmaeili Dooki, Mohammad Reza
Akhavan-Niaki, Haleh
author_sort Kholghi Oskooei, Vahid
collection PubMed
description Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system. It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200TA(7_56) and D7S523 located in intron 17b and 1 cM proximal to the CFTR gene respectively. Both microsatellites were analyzed by direct electrophoresis of PCR product on 20% polyacrylamide gel in 40 Normal subjects and 40 CF patients originating from North Iran. 9 different alleles were found for D7S523 ranging from 16 to 24 repeats alleles. (CA)(20) was the most prevalent allele both in normal individuals and CF patients with 21.3% and 20% frequencies respectively. Heterozygosity frequency of D7S523 in normal individuals and CF patients was 97.5% and 90% respectively. Eighteen different alleles were found for c.3499+200TA(7_56) ranging from 8 to 38 repeats alleles. (TA)(9 )was the most prevalent allele both in normal individuals and CF patients with 30% and 23.5% frequencies respectively. All normal subjects and 97.5% of CF patients showed heterozyous genotype. The high heterozygosity of the two studied microsatellites witnesses the dynamism of such markers. High degree of heterozygosity of c.3499+200TA(7_56) and D7S523 make these markers, a very useful tool for prenatal diagnosis especially in Iranian population.
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spelling pubmed-39204982014-02-18 Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator Kholghi Oskooei, Vahid Esmaeili Dooki, Mohammad Reza Akhavan-Niaki, Haleh Int J Mol Cell Med Original Article Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system. It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200TA(7_56) and D7S523 located in intron 17b and 1 cM proximal to the CFTR gene respectively. Both microsatellites were analyzed by direct electrophoresis of PCR product on 20% polyacrylamide gel in 40 Normal subjects and 40 CF patients originating from North Iran. 9 different alleles were found for D7S523 ranging from 16 to 24 repeats alleles. (CA)(20) was the most prevalent allele both in normal individuals and CF patients with 21.3% and 20% frequencies respectively. Heterozygosity frequency of D7S523 in normal individuals and CF patients was 97.5% and 90% respectively. Eighteen different alleles were found for c.3499+200TA(7_56) ranging from 8 to 38 repeats alleles. (TA)(9 )was the most prevalent allele both in normal individuals and CF patients with 30% and 23.5% frequencies respectively. All normal subjects and 97.5% of CF patients showed heterozyous genotype. The high heterozygosity of the two studied microsatellites witnesses the dynamism of such markers. High degree of heterozygosity of c.3499+200TA(7_56) and D7S523 make these markers, a very useful tool for prenatal diagnosis especially in Iranian population. Babol University of Medical Sciences 2012 /pmc/articles/PMC3920498/ /pubmed/24551767 Text en © 2012, International Journal of Molecular and Cellular Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kholghi Oskooei, Vahid
Esmaeili Dooki, Mohammad Reza
Akhavan-Niaki, Haleh
Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title_full Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title_fullStr Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title_full_unstemmed Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title_short Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator
title_sort analysis of c.3499+200ta(7_56) and d7s523 microsatellites linked to cystic fibrosis transmembrane regulator
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920498/
https://www.ncbi.nlm.nih.gov/pubmed/24551767
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