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:: Volume 1, Issue 2 (Int J Mol Cell Med 2012) ::
Int J Mol Cell Med 2012, 1(2): 113-118 Back to browse issues page
Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.
Vahid Kholghi Oskooei1, Mohammad Reza Esmaeili Dooki2, Haleh Akhavan-Niaki 3
1- Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
2- Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran.
3- Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran. , halehakhavan@yahoo.com
Abstract:   (11871 Views)

  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.

Keywords: Cystic Fibrosis, c.3369+213TA[7-56], D7S523, Iran
Full-Text [PDF 197 kb]   (1745 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2012/10/27 | Accepted: 2013/09/14 | Published: 2013/09/14
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Kholghi Oskooei V, Esmaeili Dooki M R, Akhavan-Niaki H. Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.. Int J Mol Cell Med. 2012; 1 (2) :113-118
URL: http://ijmcmed.org/article-1-51-en.html


Volume 1, Issue 2 (Int J Mol Cell Med 2012) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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