[Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans].
OBJECTIVE
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).


CONCLUSIONS
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.
Wang
Sheng-Wei
SW
Institute of Biomedical Engineering, West China Medical Center, Sichuan University, Chengdu, China.
Sun
Xue-Chuan
XC
Liu
Kun-Xiang
KX
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D000860:Hypoxia / Q000503:physiopathology*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D037662:Pulmonary Surfactant-Associated Protein A / Q000235:genetics*; D055815:Young Adult
D037662:Pulmonary Surfactant-Associated Protein A