广西壮族儿童ADAM33基因rs511898、rs44707位点多态性研究  

Study on rs511898 and rs44707 polymorphisms of ADAM33 gene in children of Zhuang ethnic group in Guangxi

作　　者：杨丽娟 邓高[3] 陆壮念[1,2] 李沛隆 梁立婷 罗秀状 林娜[2] Yang Lijuan;Deng Gao;Lu Zhuangnian;Li Peilong;Liang Liting;Luo Xiuzhuang;Lin Na(Graduate School,Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Pediatrics,the Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Nephrology,the Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)

机构地区：[1]右江民族医学院研究生学院,广西百色533000 [2]右江民族医学院附属医院儿科,广西百色533000 [3]右江民族医学院附属医院肾内科,广西百色533000

出　　处：《右江民族医学院学报》2021年第4期445-449,共5页Journal of Youjiang Medical University for Nationalities

基　　金：广西高校中青年教师科研基础能力提升项目(桂教科研[2021]1号);广西壮族自治区卫生和计划生育委员会自筹经费科研项目(220180212)。

摘　　要：目的探讨广西壮族儿童ADAM33基因rs511898位点和rs44707位点的单核苷酸多态性(SNP)分布特点及其与不同种族/地区人群的比较。方法采取多重单碱基延伸法(SNAPSHOT)对94例广西壮族儿童ADAM33基因rs511898、rs44707位点进行基因分型,分析不同性别各基因型及等位基因频率分布特点并与不同地区种族进行比较。结果rs511898位点存在CC、CT、TT三种基因型,以CC基因型最常见,C等位基因的频率最高;rs44707位点存在GG、GT、TT三种基因型,以GT基因型最常见,G等位基因的频率最高。广西壮族男女儿童rs511898位点、rs44707位点基因型及等位基因的分布频率差异无统计学意义(P>0.05)。广西壮族儿童rs511898位点的基因型与中国南方汉族人及美国哥伦比亚人相比差异无统计学意义(P>0.05),与非洲尼日利亚人、东亚日本人、南亚巴基斯坦人相比,差异均有统计学意义(P<0.05),rs511898位点等位基因分布频率与中国南方汉族人差异无统计学意义,与非洲尼日利亚人、东亚日本人、南亚巴基斯坦人及美国哥伦比亚人相比差异均有统计学意义(P<0.05)。广西壮族儿童rs44707位点的基因型及等位基因分布频率与中国南方汉族人相比差异无统计学意义(P>0.05),与非洲尼日利亚人、日本人、南亚巴基斯坦人、美国哥伦比亚人相比差异均有统计学意义(P<0.01)。结论ADAM33基因rs511898、rs44707位点多态性在不同种族和地区间存在差异。Objective To investigate the distribution characteristics of single nucleotide polymorphisms(SNP)at rs511898 and rs44707 loci of ADAM33 gene in children of Zhuang ethnic group in Guangxi and to compare them with different ethnic/regional populations.Methods A total of 94 children of Zhuang ethnic group in Guangxi were genotyped at rs511898 and rs44707 loci of ADAM33 gene by multiple single base extension(SNaPshot).We analyzed the frequency distribution of genotypes and alleles in different genders as well as compared them with those in different ethnic/regional groups.Results There were three genotypes,namely CC,CT and TT at the locus of rs511898,with CC as the most common genotype.And C allele had the highest frequency.There were also three genotypes at rs44707 locus,namely GG,GT,and TT,with GT as the most common gennnotype.And G allele had the highest frequency.There was no significant difference in the genotype and allele frequencies at rs511898 and rs44707 loci between male and female children of Zhuang ethnic group in Guangxi(P>0.05).But their genotypesat rs511898 loci were not significantly different from those of Han people in south China and those of American Columbians(P>0.05),but significantly differentfrom those of African Nigerians,East Asian Japanese,and South Asian Pakistanis(P<0.05).Their distribution frequency of alleles at rs511898 locus were not significantly different from that of Han people in south China,but significantly different from that of African Nigerians,East Asian Japanese,South Asian Pakistanis and American Columbians(P<0.05).Guangxi Zhuang children’s genotypes and allele distribution frequency at rs44707 locus were not significantly different from those of Han people in south China(P>0.05),but significantly different from those of African Nigerians,Japanese,South Asian Pakistanis and American Columbians(P<0.01).Conclusion The polymorphisms of rs511898 and rs44707 of DAM33 gene were distinct among different races and regions.

关 键 词：广西 壮族儿童 ADAM33 SNP 种族 

分 类 号：R725[医药卫生—儿科]