摘要
目的:通过对肺表面活性物质相关蛋白A(surfactantprotein A,SP-A)基因单核苷酸多态性(single nucleotide poly-morphism,SNP)在广东汉族人群和西藏夏尔巴人群中的分布特点的分析,探讨其与高原低氧环境适应性的关系。方法:应用序列特异性引物-聚合酶链反应(polymerase chain reac-tion-sequence specific primer,SSP-PCR)方法,对90名广东汉族人和104例西藏夏尔巴人SP-A基因进行检测。结果:在104例夏尔巴人和90名汉族人之间SP-A1基因1544位点各基因型和等位基因分布无统计学差异(P>0.05);在SP-A1基因3241位点C/C,C/T和T/T3种基因型的构成比在夏尔巴人分别为75.0%,22.1%和2.9%,而广东汉族人群为50.0%,35.6%和14.4%,夏尔巴人等位基因C、T的分布频率为86.1%和13.9%,而广东汉族为67.8%和32.2%,SP-A1 3241基因型和等位基因分布频率在两组之间比较差异有统计学意义(P<0.05);在SP-A2基因3265位点夏尔巴人C/C,A/C和A/A 3种基因型的构成比分别为37.5%,53.8%和8.7%,广东汉族为63.3%,30.0%和6.7%,两组比较差异有统计学意义(P<0.05),而且夏尔巴人等位基因C、A的分布频率为64.4%和35.6%,而广东汉族人群为78.3%和21.7%,两组比较差异有统计学意义(P<0.05)。结论:夏尔巴人SP-A2基因的3265位点基因型和等位基因分布与广东汉族人均有显著性差异,该位点SNP可能与夏尔巴人对高原低氧适应有关。
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 al- leles at SP-AI 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-AI 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.
出处
《细胞与分子免疫学杂志》
CAS
CSCD
北大核心
2007年第3期226-228,231,共4页
Chinese Journal of Cellular and Molecular Immunology
基金
军队总参谋部指令性课题基金资助(2004年)
