Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.

نویسندگان

  • Haleh Akhavan-Niaki Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
  • Vahid Kholghi Oskooei Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
چکیده مقاله:

  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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analysis of c.3369+213ta[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 heterozygosity for c.3499+200ta(7_56) and d7s523 located in intron 17b and 1 cm proximal to the...

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

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عنوان ژورنال

دوره 1  شماره None

صفحات  113- 118

تاریخ انتشار 2012-10

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