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（C：43.75%/47.02%,T：56.25%/52.98%）;rs3027400（G：42.19%/45.03%,T：57.81%/54.97%）;rs12843268（A：57.81%/55.63%,G：42.19%/44.37%）;女性rs1137070（CC：16.39%/18.26%,CT：46.45%/44.75%,TT：37.16%/36.99%;C：39.62%/40.64%,T：60.38%/59.36%）;rs3027400（GG：16.39%/21.46%,GT：47.00%/35.16%,TT：36.61%/43.38%;G：39.89%/39.04%,T：60.11%/60.96%）;rs12843268（AA：36.06%/37.44%,AG：46.45%/40.64%,GG：17.49%/21.92%;A：59.29%/57.76%,G：40.71%/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。

Distribution Characteristics of the MAOA Gene Polymorphisms in Ningxia Population

Objective To investigate the frequencies of rs1137070,rs3027400 and rs12843268 allele and genotype distribution of the MAOA gene polymorphisms in the Hui and Han population in Ningxia,and to analyze the distribution of MAOA gene polymorphisms among different ethnicities.Methods All 681 Subjects were students from Ningxia Medical University,including 311 cases of the Hui and 370 cases of the Han.The rs1137070 and rs3027400 site polymorphisms were examined by the polymerase chain reaction-restriction fragment length polymorphism（ PCR-RFLP）.The rs12843268 site polymorphism was examined by the Allele-Specific polymerase chain reaction（ AS-PCR） methods.Results The genotypes frequencies and allele gene frequency of MAOA gene in Ningxia Hui and Han ethnicity were：Male rs1137070（ C：43.75% / 47.02%,T：56.25% / 52.98%）;rs3027400（ G：42.19% / 45.03%,T：57.81% / 54.97%）;rs12843268（ A：57.81% / 55.63%,G：42.19% / 44.37%）;Female rs1137070（ CC：16.39% / 18.26%,CT：46.45% / 44.75%,TT：37.16% / 36.99%;C：39.62% / 40.64%,T：60.38% / 59.36%）;rs3027400（ GG：16.39% / 21.46%,GT：47.00% / 35.16%,TT：36.61% / 43.38%;G：39.89% / 39.04%,T：60.11% / 60.96%）;rs12843268（ AA：36.06% /37.44%,AG：46.45% / 40.64%,GG：17.49% / 21.92%;A：59.29% / 57.76%,G：40.71% / 42.24%）.The distribution traits of rs1137070 genotype frequencies had no significantly different between female population in Ningxia and Beijing and Japanese（ P〈0.05）,but they had different from European and Yoruba（ P〈0.05）.The distribution traits of rs3027400 and rs12843268 genotype frequencies all had significantly different between female population in Ningxia and other different ethnicities of MAOA gene（ P〈0.05）.Conclusion We didn＇t find significantly different between the Hui and Han ethnic of Ningxia population in the three SNPs（ P〈0.05）.There are differences between ethnicities and region significantly in the females of Ningxia.