Publication: Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population
Issued Date
2006-01-01
Resource Type
ISSN
09575235
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2-s2.0-31644433070
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Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Blood Coagulation and Fibrinolysis. Vol.17, No.1 (2006), 13-18
Suggested Citation
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. Blood Coagulation and Fibrinolysis. Vol.17, No.1 (2006), 13-18. doi:10.1097/01.mbc.0000198051.27387.a3 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/23873
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Title
Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population
Other Contributor(s)
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
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
Abstract
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.