中国汉族军人甘露糖结合凝集素基因多态性分析

Study of mannose-binding lectin gene polymorphism in Chinese Han soldiers

目的:分析中国汉族人群甘露糖结合凝集素(m annose b ind ing lectin,MBL)基因分型及单倍体分型。方法:联合应用引物序列特异性PCR扩增(PCR-SSP),序列特异性寡核苷酸探针杂交(PCR-SSOP)方法对AB,HL,PQ和XY多态性位点进行基因分型及单倍体分型,并利用该方法对212名中国汉族军人的DNA样品进行4个多态性位点的系统筛查。结果与结论:MBL基因4个多态性位点以5种单倍体型形式存在:HYPA,LYPA,LYPB,LXPA和LYQA,212份样本的单倍体型频率从高到低依次为HYPA(52.15%),LXPA(16.05%),LYPB(11.75%),LYQA(10.10%),LYPA(9.85%),共发现15种基因型,频率最高的3种为:HYPA/HYPA(27.4%),HYPA/LXPA(14.2%)和HYPA/LYPB(12.7%)。与已有研究比较,发现各民族之间的基因型频率相差较大,中国汉族人群的频率分布与亚裔人较为接近。

Objective： To investigate the distribution of mannose-binding lectin （MBL） genotypes and haplotypes in Chinese Han soldiers. Methods： Four SNPs in MBL gene （ H/L, X/Y, P/Q and A/B,respectively） were examined by sequence-specific polymerase chain reactions （PCR-SSP） and sequence-specific oligonucleotide probes （PCR-SSOP）. A total of 212 samples of Chinese Han soldiers were genotyped and haplotyped. Results and Conclusion： The haplotyping analysis disclosed five haplotypes for the four loci： HYPA, LYPA, LYPB, LYQA, and LXPA. Fifteen genotypes were found and the three most prevalent genotypes were HYPA/HYPA （ 27.4% ）, HYPA/LXPA （ 14.2% ） and HYPA/LYPB （ 12. 7% ）. The frequency of genotypes has significant difference among different races and the fregnency distribution in the Chinese Han population approximates that in other Asian population.