高原世居藏族人群CD14基因单核苷酸多态性研究  

Study of CD14 single nucleotide polymorphisms in native Tibetans living in high altitude

作　　者：李康[1] 旦增[1] 格桑罗布[1] 

机构地区：[1]西藏自治区人民医院消化科,拉萨850000

出　　处：《国际遗传学杂志》2015年第3期121-126,131,共7页International Journal of Genetics

基　　金：国家自然科学基金（81060165）;国家科技支撑计划（2013BA105B04）

摘　　要：目的通过检测高原世居藏族人群CD14基因全长的序列信息，了解该地区藏族人群CD14基因单核苷酸多态性变化的遗传特点。方法采用直接测序的方法检测40例西藏高原世居藏族人群CD14基因全长，将测序结果与美国国家生物技术信息中心（NCBI）及国际人类基因组单体型图计划（HapMap）数据库比对，确定高原藏族CD14基因SNP位点的位置、类型和频率，并与不同人群SNP等位基因频率进行分析比较。结果高原世居藏族人群CD14基因总有效测序长度约为4259bp，共发现9个CD14基因SNP位点，其中有6个位点在NCBI的dbSNP数据库中已经存在，新发现3个SNP位点分别为：SNP04（2755T〉G）、SNP07（3801T〉C）、SNP08（4192T〉A）。通过9个位点计算出4个主要单倍型，分别是CAGTCCTTG，频率为36．1％；CGGTCCTTG，频率为28．8％；CGGTCCTTC，频率为5．8％；CGATCCTTG，频率为3．8％。不同人群等位基因分析比较发现：在rs2563298位点，携带A等位基因在高原藏族人群的分布频率显著低于中国汉族（P=0．016）、欧洲（P=0．000）、Et本（P=0．002）和非洲人群（P=0．001）；在rs2569190位点，高原藏族人群携带G等位基因显著低于非洲人群（P=0．001），而与中国汉族（P=0．755）、日本（P=0．635）和欧洲人群（P=0．467）分布相似，差异无统计学意义。在rs2569192位点，C等位基因在高原藏族人群低于欧洲人群（P=0．035），而与中国汉族（P=0．837）、日本（P=0．266）和非洲人群（P=0．064）分布相似差异无统计学意义。结论高原世居藏族人群CD14基因SNPs分布具有自身的遗传特征，本项研究将为进一步探讨高原地区藏族人群CD14基因相关疾病发病机制提供科学依据。Objective To understand the genetic feature of variations of single nucleotide polymorphisms （ SNPs ） in CD14 gene, we detected the full-length sequence of CD14 gene of native Tibetans situated in Tibetan plateau. Methods The full-length sequence of CD14 gene from 40 native Tibetans was detected by direct sequencing and that was compared with those recorded by NCBI and HapMap ge- nome databases. By this way, the loci, type and frequency of SNPs in CD14 gene were determined, which was further compared with the SNP allele frequency of other populations. Results The sequencing length of CD14 gene in these native Tibetans is approximately 4259 bp. Among them nine SNP loci were detected, in which 6 has been listed in the dbSNP database of NCBI and the three new SNP loci include SNP04 （2755 T〉 G）, SNP07 （3801 T 〉 C） and SNP08 （4192 T 〉A）. Four major haplotypes were calculated from the 9 SNP loci as below ： CAGTCCTI＇G in a frequency of 36. 1% , CGGTCCTI＇G of 28. 8 % , CGGTCCTrC of 5. 8 % and CGATCCTI＇G of 3. 8 % . Comparing alleles of different populations revealed that the distribution frequency of A allele at rs2563298 in Tibetan population is significantly low- er than those in Chinese Han （P =0.016）, European （P =0.000） , Japanese （P =0.002） and African （P = 0. 001 ） ; that of G allele at rs2569190 is significantly lower than that in African （P = 0.001）, but similar to those in Chinese Han （P =0.755）, Japanese （P =0.635） and European （P =0. 467） and that of C allele at rs2569192 is significantly lower than that in European （P = 0. 035 ） , but does not significantly differ from those in Chinese Han （ P = 0. 837 ） , Japanese （ P = 0. 266 ） and African （P = 0. 064 ）. Conehlsion The distribution of SNPs in CD14 gene of native Tibetans situated in Tibetan plateau has specific hereditary characteristics, which provides a scientific basis for further exploring the pathogenesis of CD14-related diseases in such population.

关 键 词：CD14 单核苷酸多态性 高原 世居藏族 

分 类 号：R394[医药卫生—医学遗传学]