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miR-181基因rs16927589位点单核苷酸多态性在中国广西人群中的分布特点
作者:王春芳 雷 茗 庞晓霞 黄华佗 王俊利 韦贵将 韦叶生▲ 
单位:(右江民族医学院附属医院检验科 百色 533000) 
关键词:miR-181基因 单核苷酸多态性 种族 
分类号:R394
出版年,卷(期):页码:2018,46(2):121-125
摘要:
目的 分析miR-181基因rs16927589位点单核苷酸多态性(single nucleotide polymorphism,SNP)在中国广西地区人群中的分布特点,并比较其基因型和等位基因频率与其他种族和地区人群间的分布差异。方法 采用SNaPshot SNP技术和DNA测序技术检测299例中国广西人群rs16927589位点SNPs,用统计学方法分析其基因型和等位基因频率与国际人类基因组单体型图(Haplotype map,HapMap)计划公布的北京人群(HapMap-HCB)、日本人群(HapMap-JPT)、肯尼亚人群(HapMap-LWK)、印度人群(HapMap-GIH)及欧洲人群(HapMap-CEU)间的差异。结果 中国广西人群存在miR-181基因rs16927589多态性,有TT、TC和CC三种基因型,其频率分别为73.6%、25.4%和1.0%,含T和C两种等位基因,频率分别为86.3%和13.7%,两者男女组间比较差异无统计学意义(P>0.05);与HapMap-HCB人群比较差异无统计学意义(P>0.05),但与HapMap-GIH、HapMap-LWK、HapMap-JPT及HapMap-CEU比较差异均有统计学意义(P<0.05或0.01)。结论 在中国广西人群存在miR-181基因rs16927589多态性,且在不同地域和种族人群间比较存在差异。不同种族和地区人群SNP差异可能是miR-181基因相关疾病在临床表现和发病率不同的重要因素之一。
基金项目:
国家自然科学基金(81460067,81260234);广西医疗卫生适宜技术开发与推广应用项目(S201650)
作者简介:
王春芳,女,副主任技师,医学硕士,研究方向:分子生物学和免疫学。E-mail:578457776@qq.com
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