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Updated: Jul 16, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
[Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans]
Sheng-Wei Wang1, Xue-Chuan Sun, Kun-Xiang Liu
1Institute of Biomedical Engineering, West China Medical Center, Sichuan University, Chengdu, China.
Aim:
To investigate the relationship between single nucleotide polymorphisms(SNPs) of surfactant protein A(SP-A) gene of Chinese Han and Sherpas and their adaptation to high altitude hypoxia.
Methods:
The genotypes of 90 Chinese Han in Guangdong and 104 Sherpas in Tibet were analyzed by sequence special primer polymerase chain reaction(SSP-PCR) sequencing the surfactant protein A gene.
Results:
The frequencies of genotypes and alleles at SP-A1 1544 locus showed no difference between the Sherpas and the Chinese Han (P>0.05). However, the frequencies of genotypes C/C, C/T and T/T at SP-A1 3241 locus were 75.0%, 22.1% and 2.9%, respectively in Sherpas, difference to Han population, they were 50.0%, 35.6% and 14.4%, respectirely(P<0.05). Whilst in Sherpas allele frequencies of C and T were 86.1% and 13.9% respectively but they were 67.8% and 32.2% respectively in the Chinese Han(P<0.05); The frequencies of C/C, A/C and A/A at SP-A2 3265 locus were 37.5%, 53.8%, and 8.7%, respectively in the Sherpas were also difference to Chinese Han, they were 63.3%, 30.0%, and 6.7%, respectively. Whilst allele frequencies of C and A were 64.4% and 35.6% in Sherpas but 78.3% and 21.7% in Chinese Han, which showed statistically difference between two groups(P<0.05).
Conclusion:
There were statistically differences of genotypes and alleles at SP-A2 3265 locus in Hans and Sherpas. SNP in SP-A2 at 3265 may be related to the adaptation of Sherpas to high altitude hypoxia.
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