重庆医学Issue(1)：56-58,61,4.DOI:10.3969/j.issn.1671-8348.2016.01.019
质膜Ca2＋-ATP酶异构体2基因多态性与突发性耳聋的关系
Association between poly-morphism of Ca2 + -ATPase isomer 2 gene in plasma membrane and sudden deafness
摘要
Abstract
Objective To investigate the association between polymorphisms of Ca2 + -ATPase isomer 2 gene (PMCA2) in plasma membrane and the development of sudden deafness .Methods Totally ,164 patients were investigated and hearing tests were conducted .According to the results of audiometry ,they were divided into two groups ,sensorineural hearing loss group(n= 82) and normal hearing group(n= 82) .Polymorphisms of two single nucleotide loci rs2289274 and rs6790640 in the PMCA2 gene were de-termined by polymerase chain reaction followed by allele specific amplication analysis .Results In the sudden deafness group ,fre-quencies of genotypes AA ,AG and GG in the rs2289274 locus were 55 .8% ,17 .4% and 26 .8% respectively ,while frequencies of al-leles A and G in the same locus were 64 .5% and 35 .5% respectively ;in the sensorineural hearing loss group ,were 26 .8% ,28 .0%and 45 .2% respectively ,while frequencies of alleles A and G were 41 .1% and 58 .9% .And ,in the sudden deafness group ,frequen-cies of genotypes CC ,CT and TT in the rs2289274 locus were18 .3% ,35 .4% and 46 .3% respectively ,while frequencies of alleles C and T in the same locus were 36 .3% and 63 .7% ;in the normal hearing group ,were 2 .4% ,63 .4% and 34 .1% respectively ,while frequencies of alleles C and T were34 .1% and 65 .9% ,respectively .Genotypes distribution of two sites and their allele frequencies of the two groups ,some differences of them had statistical significance(P< 0 .05) .Conclusion It is suggested that genetic polymor-phism of the rs2289274 and rs6790640 loci in the PMCA2 gene might be a susceptible factor for sudden deafness .关键词
钙转运ATP酶类/质膜Ca2+-ATP酶异构体/多态性,单核苷酸/突发性耳聋/疾病易感性Key words
calcium-transporting ATPases/PMCA2/polymorphism ,single nucleotide/sudden deafness/disease susceptibility分类
医药卫生引用本文复制引用
邓嘉虹,金磊..质膜Ca2＋-ATP酶异构体2基因多态性与突发性耳聋的关系[J].重庆医学,2016,(1):56-58,61,4.基金项目
云南省科技厅联合专项（CD190）。 （）
