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 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.
Chumpia
Worawan
W
Faculty of Medical Technology, Mahidol University, and Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.
Peerapittayamongkol
Chayanon
C
Angchaisuksiri
Pantep
P
Komanasin
Nantarat
N
Muta
Koichiro
K
Kuaha
Kunnika
K
Iida
Hiroko
H
Inoue
Sumiko
S
Wada
Yui
Y
Kurihara
Masako
M
Hamasaki
Naotaka
N
Fucharoen
Suthat
S
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
D011486:Protein C; D017293:Protein S