质膜Ca2＋-ATP酶异构体2基因多态性与突发性耳聋的关系

目的：探讨质膜 Ca2＋-ATP 酶异构体2（PMCA2）基因的多态性与突发性耳聋的关系。方法采用分组研究的方法，对164名受检者进行调查和听力测试，按听力学评价的结果将其分为感音神经性听力损失的突发性耳聋组（n＝82）和听力正常组（n＝82）；用 PCR 和等位基因特意扩增法检测 PMCA2基因上 rs2289274和 rs6790640两个单核苷酸位点的多态性。结果在突发性耳聋组中，rs2289274位点基因型频率分别为 AA 55．8％，AG 17．4％，GG 26．8％，等位基因频率 A 64．5％和 G 35．5％。在听力正常组中，rs2289274位点基因型频率分别为 AA 26．8％，AG 28．0％，GG 45．2％，等位基因频率 A 41．1％和 G 58．9％。在突发性耳聋组中，rs6790640位点基因型频率分别为 CC 18．3％，CT 35．4％，TT 46．3％，等位基因频率 C 36．3％和 T 63．7％。在听力正常患者组中，rs6790640位点基因型频率分别为 CC 2．4％，CT 63．4％，TT 34．1％，等位基因频率 C 34．1％和 G 65．9％。两位点的基因型分布及其等位基因频率在突发性耳聋组和听力正常患者组之间部分差异有统计学意义（P＜0．05）。结论 PMCA2基因 rs2289274和 rs6790640两个单核苷酸位点的多态性可能是突发性耳聋的遗传易感性因素。

Association between poly-morphism of Ca2 + -ATPase isomer 2 gene in plasma membrane and sudden deafness

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 .