Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans

    WANG Shengª²wei,SUN Xueª²chuan*, LIU Kunª²xiang

    Institute of Biomedical Engineering, West China Medical Center, Sichuan University, Chengdu 610041; Medical College, Yanª²an University, Yanª²an 716000; Physical Education College of PLA, Guangzhou 510500, China

    [Abstract] AIM: To investigate the relationship between single nucleotide polymorphisms(SNPs) of surfactant protein A(SPª²A) 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(SSPª²PCR) sequencing the surfactant protein A gene. RESULTS: The frequencies of genotypes and alleles at SPª²A1 1544 locus showed no difference between the Sherpas and the Chinese Han (P>0ª±05). However, the frequencies of genotypes C/C, C/T and T/T at SPª²A1 3241 locus were 75ª±0%, 22ª±1% and 2ª±9%, respectively in Sherpas, difference to Han population, they were 50ª±0%, 35ª±6% and 14ª±4%, respectirely(P<0ª±05). Whilst in Sherpas allele frequencies of C and T were 86ª±1% and 13ª±9% respectively but they were 67ª±8% and 32ª±2% respectively in the Chinese Han(P<0ª±05); The frequencies of C/C, A/C and A/A at SPª²A2 3265 locus were 37ª±5%, 53ª±8%, and 8ª±7%, respectively in the Sherpas were also difference to Chinese Han, they were 63ª±3%, 30ª±0%, and 6ª±7%, respectively. Whilst allele frequencies of C and A were 64ª±4% and 35ª±6% in Sherpas but 78ª±3% and 21ª±7% in Chinese Han, which showed statistically difference between two groups(P<0ª±05). CONCLUSION: There were statistically differences of genotypes and alleles at SPª²A2 3265 locus in Hans and Sherpas. SNP in SPª²A2 at 3265 may be related to the adaptation of Sherpas to high altitude hypoxia. ......