title: Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population.
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 promotor 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.
authors.affiliation: Faculty of Medical Technology, Mahidol University, and Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.
authors.forename: Worawan
authors.initials: W
authors.lastname: Chumpia
authors.forename: Chayanon
authors.initials: C
authors.lastname: Peerapittayamongkol
authors.forename: Pantep
authors.initials: P
authors.lastname: Angchaisuksiri
authors.forename: Nantarat
authors.initials: N
authors.lastname: Komanasin
authors.forename: Koichiro
authors.initials: K
authors.lastname: Muta
authors.forename: Kunnika
authors.initials: K
authors.lastname: Kuaha
authors.forename: Hiroko
authors.initials: H
authors.lastname: Iida
authors.forename: Sumiko
authors.initials: S
authors.lastname: Inoue
authors.forename: Yui
authors.initials: Y
authors.lastname: Wada
authors.forename: Masako
authors.initials: M
authors.lastname: Kurihara
authors.forename: Naotaka
authors.initials: N
authors.lastname: Hamasaki
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000328:Adult; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011486:Protein C / Q000235:genetics*; D017293:Protein S / Q000235:genetics*; D013785:Thailand
chemical_list: D011486:Protein C; D017293:Protein S