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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-10: Polymorphic Information Content oM470V and D7S523 Marker of CFTR Gene in North of Iran
چکیده انگلیسی مقاله Objective: Cyctic fibrosis (CF) is a multiorganic autosomal recessive disorder caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2000 mutation have been reported for this gene, but only a small number of known CFTR mutations, approximately 30 of them, have individual frequencies higher than 0.1% in CF patients. Therefore the direct identification of mutations is not completely efficient specially in highly heterogeneous populations. Gene tracking by means of highly polymorphic markers can facilitate phenotype prediction in diagnostic and screening program. Materials and Methods: The polymorphic information content (PIC) for M470V in 40 CF patients and 40 normal peoples was determined by PCR-RFLP using HphІ restriction enzyme. D7S523 PIC was studied directly by electrophoresis of PCR product on polyacrylamide gel. Results: Our results show that heterozygosity frequency of M470V in CF patients and normal peoples are respectively 37.5% and 50%. The multiallelic D7S523 locus showed more than 80% heterosigosity in normal peoples. Conclusion: The allelic distribution and heterozygosity results suggest that D7S523, M470V can contribute to carrier and prenatal diagnosis of CF in families in which 1 or both causal mutations have not been identified.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1542
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