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Iranian Journal of Basic Medical Sciences، جلد ۱۷، شماره ۶، صفحات ۴۴۱-۴۴۷
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عنوان انگلیسی Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in six ethnic groups of Pakistani population
چکیده انگلیسی مقاله Objective(s):Organic anion transporter polypeptide 1B1 (OATP1B1) encoded by solute carrier organic transporter 1B1 (SLCO1B1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (388A>G and 521T>C) and their haplotypes in 6 ethnic groups of Pakistani population through the development of rapid and efficient Tetra amplification refractory mutation system (T. ARMS) genotyping assay. Materials and Methods: Frequencies of alleles, genotype, and haplotypes of two functionally significant Single nucleotide polymorphism in 180 healthy Pakistani subjects and distributions in six ethnic groups by using a single step T. ARMS genotyping assay. Results: The allelic frequency for 388A>G SNP was 50% in total Pakistani population with distributions of 9.7%, 15.1%, 19.4%, 16.1%, 18.3%, and 21.5% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri and Hazara/Baltistan groups respectively; and for 521T>C SNP it was 23.9% in total Pakistani population with distributions of 11.1%, 8.9%, 15.6%, 11.1%, 31.1% and 22.2% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri, and Hazara/Baltistan groups. Both functionally significant SNPs occurred in four major haplotypes with a frequency of 35.5% for 388A/521T (*1A), 40.5% for 388G/521T (*1B), 14.4% for 388A/521C (*5), and 9.4% for 388G/521C (*15) with varying distributions among six ethnic groups. Conclusion: The 388A>G and 521T>C genotypes and corresponding haplotypes are present at varying frequencies in various ethnic groups of Pakistani population. Pharmacokinetic and pharmacodynamic
کلیدواژه‌های انگلیسی مقاله Haplotype, OATP1B1, single nucleotide polymorphism, SLCO1B1
نویسندگان مقاله tausif احمد راجپوت | tausif ahmed rajput
department of biochemistry and molecular biology, centre for research in experimental and applied medicine cream , army medical college, national university of sciences amp;amp; technology nust , islamabad, pakistan


بینتی خلیق نوید | abdul khaliq naveed
department of biochemistry and molecular biology, centre for research in experimental and applied medicine cream , army medical college, national university of sciences amp;amp; technology nust , islamabad, pakistan


shakir خان | shakir khan
department of biochemistry and molecular biology, centre for research in experimental and applied medicine cream , army medical college, national university of sciences amp;amp; technology nust , islamabad, pakistan


ضیای ur رحمانی فاروقی | zia ur rehman farooqi
department of biochemistry and molecular biology, centre for research in experimental and applied medicine cream , army medical college, national university of sciences amp;amp; technology nust , islamabad, pakistan
نشانی اینترنتی http://ijbms.mums.ac.ir/article_2929.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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