MAOA基因多态性在宁夏人群中的分布特征

目的探讨单胺氧化酶(MAOA)基因rs1137070、rs3027400和rs12843268位点在宁夏回、汉族人群中及不同性别间的分布特征。方法研究对象为宁夏医科大学体检健康学生681例,其中回族311例,汉族370例。rs1137070、rs3027400位点采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测,rs12843268位点采用等位基因特异性PCR(AS-PCR)的方法检测。结果宁夏回、汉族人群MAOA基因三个多态位点基因型频率及等位基因频率分别为男性rs1137070(C43.75%/47.02%,T56.25%/52.98%);rs3027400(G42.19%/45.03%,T57.81%/54.97%);rs12843268(A57.81%/55.63%,G42.19%/44.37%);女性rs1137070(CC16.39%/18.26%,CT46.45%/44.75%,TT37.16%/36.99%;C39.62%/40.64%,T60.38%/59.36%);rs3027400(GG16.39%/21.46%,GT47.00%/35.16%,TT36.61%/43.38%;G39.89%/39.04%,T60.11%/60.96%);rs12843268(AA36.06%/37.44%,AG46.45%/40.64%,GG17.49%/21.92%;A59.29%/57.76%,G40.71%/42.24%)。宁夏女性人群rs1137070位点基因型频率的分布与人类基因组计划扫描所得北京、日本女性人群相比无显著性差异(P>0.05),而与欧洲及非洲女性人群相比有显著性差异(P<0.05);rs3027400和rs12843268位点基因型频率的分布与北京、日本、欧洲及非洲女性人群相比差异均有显著性(P<0.05)。结论MAOA基因rs1137070、rs3027400和rs12843268多态性位点在宁夏男性与女性回、汉族之间均无显著性差异;宁夏女性人群存在显著的种族及地区间差异。