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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-8: XV-2c, KM19 and IVS6a Polymorphism Analysis in Northern Iranian Patients with Cystic Fibrosis
چکیده انگلیسی مقاله Objective: Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1800 mutations and polymorphisms have been described, with frequencies that differ worldwide according to the ethnic origin of patients. Since CF is highly heterogeneous in our population, studying linked polymorphic sites or haplotype association with normal and CF chromosomes could be very helpful in all cases where one or both mutations remain unidentified. Materials and Methods: In this study polymorphism analysis was accomplished using two diallelic extragenic sites (XV2C/Taq1 - KM19/PstI) located at locus D7S23 and one intragenic tetranucleotide repeat (IVS6a(GATT)) located at the junction of intron IVS6A and exon 6B on 40 CF patients and 40 healthy control. Results: Our data show that heterozygosity is between 35% and 52% for XV2C/Taq1and KM19/Pst in both patients and control group. For IVS6a (GATT) n a frequency of 0.78 and 0.22 was observed for n=7 and n=6 respectively in both groups with a linkage disequilibrium in CF patients. Conclusion: All three polymorphic markers could be used for carrier screening or CF detection in families with previous history of the disease. The analysis of linkage disequilibrium between IVS6a (GATT) marker with the CFTR gene, should allow to trace the origin and evolution of some CF mutations.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1540
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