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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Frequency distribution of single nucleotide polymorphisms in P-selectin gene in Chinese Tibetan and Han populations
Ting-ting Zeng1, Yuan-xin Ye, Qian Niu
1Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, PR China. zingteng80@gmail.com
Background:
Chinese Tibetans have a series of distinctive physiological traits which enable them to tolerate the extreme environment of the Tibetan plateau. P-selectin gene has been proved to be highly polymorphic in Europeans and Americans. Nevertheless, studies on either the frequency distributions of single nucleotide polymorphisms (SNPs) or haplotype diversity and linkage disequilibrium of P-selectin gene in Chinese Tibetan population are still unavailable.
Methods:
The frequency distributions of 3 SNPs in P-selectin gene promoter (-2123C/G, -1969A/G, -1817T/C) and 3 SNPs in exon region (Ser290Asn, Val599Leu, Thr715Pro) were investigated by real-time PCR and high-resolution melting method among 314 Chinese Tibetans and 328 age- and sex-matched Han people.
Results:
The frequencies of the -2123G and -1817T alleles among the Tibetan population had no significant differences from those of the Han population. Among the Tibetan population, the G allele frequency of -1969A/G and Ser290Asn were both higher than those of the Han population. Val599Leu and Thr715Pro did not show any polymorphism in the two populations. In the Tibetan population, -2123C/G, -1969A/G, -1817T/C and Ser290Asn were in tight linkage disequilibrium with each other.
Conclusions:
The frequency distributions of -1969A/G and Ser290Asn polymorphisms in the Tibetan population were different from those in the Han population.
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