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International Journal of Molecular and Cellular Medicine، جلد ۱، شماره ۲، صفحات ۱۱۳-۱۱۸
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator. |
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| چکیده انگلیسی 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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| کلیدواژه‌های انگلیسی مقاله |
Cystic Fibrosis, c.3369+213TA[7-56], D7S523, Iran |
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| نویسندگان مقاله |
وحید خلقی | vahid kholghi oskooei
cellular and molecular biology research center cmbrc , babol university of medical sciences, babol, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)
محمدرضا اسماعیلی دوکی | mohammad reza esmaeili dooki
non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)
هاله اخوان نیاکی | haleh akhavan niaki
cellular and molecular biology research center cmbrc , babol university of medical sciences, babol, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)
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| نشانی اینترنتی |
http://www.ijmcmed.org/browse.php?a_code=A-10-24-1&slc_lang=en&sid=en |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
1 |
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