Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population
Protein C (PC) and protein S (PS) play key roles in an anticoagulant pathway in order to control the haemostatic system. We identified single nucleotide polymorphisms (SNPs) and/or haplotypes in the promoter and exons of the whole PC and PS genes and in the 3′-untranslated region of the PS gene in 5...
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th-mahidol.238732018-08-20T14:22:14Z Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population Worawan Chumpia Chayanon Peerapittayamongkol Pantep Angchaisuksiri Nantarat Komanasin Koichiro Muta Kunnika Kuaha Hiroko Iida Sumiko Inoue Yui Wada Masako Kurihara Naotaka Hamasaki Suthat Fucharoen Mahidol University Kyushu University The Institute of Science and Technology for Research and Development, Mahidol University Faculty of Medicine, Siriraj Hospital, Mahidol University Faculty of Medicine, Ramathibodi Hospital, Mahidol University Khon Kaen University Graduate School of Medical Sciences Medicine Protein C (PC) and protein S (PS) play key roles in an anticoagulant pathway in order to control the haemostatic system. We identified single nucleotide polymorphisms (SNPs) and/or haplotypes in the promoter and exons of the whole PC and PS genes and in the 3′-untranslated region of the PS gene in 55 Thai individuals. The PC gene revealed 10 haplotypes. One synonymous SNP at 2196 was found in the normal Thai population with a minor allele frequency of 4.90%. One homozygous mutation in exon 7, R147W, co-segregated with the synonymous SNP 2196 (homozygote) of the PC gene, resulting in decreased PC activity and antigenic levels. The PS gene revealed three haplotypes with two frequent dimorphisms in exon 15 and the 3′-untranslated region. The most frequent haplotype in the PS gene was H3(wild type). There was no correlation between the haplotypes of PC and PS genes with functional and antigenic levels of PC and PS. © 2006 Lippincott Williams & Wilkins. 2018-08-20T07:22:14Z 2018-08-20T07:22:14Z 2006-01-01 Article Blood Coagulation and Fibrinolysis. Vol.17, No.1 (2006), 13-18 10.1097/01.mbc.0000198051.27387.a3 09575235 2-s2.0-31644433070 https://repository.li.mahidol.ac.th/handle/123456789/23873 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=31644433070&origin=inward |
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Medicine Worawan Chumpia Chayanon Peerapittayamongkol Pantep Angchaisuksiri Nantarat Komanasin Koichiro Muta Kunnika Kuaha Hiroko Iida Sumiko Inoue Yui Wada Masako Kurihara Naotaka Hamasaki Suthat Fucharoen Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
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Protein C (PC) and protein S (PS) play key roles in an anticoagulant pathway in order to control the haemostatic system. We identified single nucleotide polymorphisms (SNPs) and/or haplotypes in the promoter and exons of the whole PC and PS genes and in the 3′-untranslated region of the PS gene in 55 Thai individuals. The PC gene revealed 10 haplotypes. One synonymous SNP at 2196 was found in the normal Thai population with a minor allele frequency of 4.90%. One homozygous mutation in exon 7, R147W, co-segregated with the synonymous SNP 2196 (homozygote) of the PC gene, resulting in decreased PC activity and antigenic levels. The PS gene revealed three haplotypes with two frequent dimorphisms in exon 15 and the 3′-untranslated region. The most frequent haplotype in the PS gene was H3(wild type). There was no correlation between the haplotypes of PC and PS genes with functional and antigenic levels of PC and PS. © 2006 Lippincott Williams & Wilkins. |
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Mahidol University |
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Mahidol University Worawan Chumpia Chayanon Peerapittayamongkol Pantep Angchaisuksiri Nantarat Komanasin Koichiro Muta Kunnika Kuaha Hiroko Iida Sumiko Inoue Yui Wada Masako Kurihara Naotaka Hamasaki Suthat Fucharoen |
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Article |
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Worawan Chumpia Chayanon Peerapittayamongkol Pantep Angchaisuksiri Nantarat Komanasin Koichiro Muta Kunnika Kuaha Hiroko Iida Sumiko Inoue Yui Wada Masako Kurihara Naotaka Hamasaki Suthat Fucharoen |
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Worawan Chumpia |
title |
Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
title_short |
Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
title_full |
Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
title_fullStr |
Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
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Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population |
title_sort |
single nucleotide polymorphisms and haplotypes of protein c and protein s genes in the thai population |
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2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/23873 |
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1763488674855518208 |