CAJ | 학술논문

目的探讨过氧化氢酶(catalase,CAT)基因5'区-6411 A/G(rs208679)多态性在重庆汉族人群中的分布及其与噪声性耳聋(noise-induced hearing loss,NIHL)的关联研究. 方法以重庆地区汉族无血缘关系的健康自愿者225例(健康对照组)、噪声接触者237例(噪声接触组)作为研究对象.噪声接触组根据有无NIHL又分为无耳聋组170例和耳聋组67例.采用iMLDRTM分型技术,分别检测各组CAT基因5'区rs208679多态的基因型,并比较组间基因型、等位基因频率分布及临床耳聋发生率间的差异. 结果在研究人群中检测到rs208679多态的3种基因型AA、AG和GG,两组人群的A等位基因频率均为0.76,G等位基因频率为0.24,健康对照组和噪声接触组基因型频率分布符合Hardy-Weinberg遗传平衡定律(P＞0.05).健康对照组与噪声接触组、无耳聋组与耳聋组间,多态基因型(AA、AG及GG)和等位基因(A、G)频率分布差异均无统计学意义(P＞0.05);但无耳聋组与耳聋组的隐性分析GG∶AG+ AA差异有统计学意义(P＜0.05). 结论 rs208679是NIHL的易感基因,可作为NIHL易感性的生物标志.
목적 탐토과양화경매(catalase,CAT)기인5'구-6411 A/G(rs208679)다태성재중경한족인군중적분포급기여조성성이롱(noise-induced hearing loss,NIHL)적관련연구. 방법 이중경지구한족무혈연관계적건강자원자225례(건강대조조)、조성접촉자237례(조성접촉조)작위연구대상.조성접촉조근거유무NIHL우분위무이롱조170례화이롱조67례.채용iMLDRTM분형기술,분별검측각조CAT기인5'구rs208679다태적기인형,병비교조간기인형、등위기인빈솔분포급림상이롱발생솔간적차이. 결과 재연구인군중검측도rs208679다태적3충기인형AA、AG화GG,량조인군적A등위기인빈솔균위0.76,G등위기인빈솔위0.24,건강대조조화조성접촉조기인형빈솔분포부합Hardy-Weinberg유전평형정률(P＞0.05).건강대조조여조성접촉조、무이롱조여이롱조간,다태기인형(AA、AG급GG)화등위기인(A、G)빈솔분포차이균무통계학의의(P＞0.05);단무이롱조여이롱조적은성분석GG∶AG+ AA차이유통계학의의(P＜0.05). 결론 rs208679시NIHL적역감기인,가작위NIHL역감성적생물표지.
Objective To investigate the distribution of-6411A/G (rs208679) polymorphism in the 5' region of catalase (CAT) gene among Han population in Chongqing and its correlation with noiseinduced hearing loss (NIHL).Methods A total of 225 healthy volunteers (normal control group) and 237 noise exposure cases (noise exposure group) were collected from the unrelated Han people in Chongqing.The noise exposure group were further divided into non-deaf group (n =170) and deaf group (n =67) according the presence or absence of NIHL.rs208679 polymorphism in the 5' region of CAT gene was identified using the improved multiplex ligation detection reaction (iMLDR) technique.Genotypes,allelic frequencies and clinical deaf incidence were compared among groups.Results Three genotypes (AA,AG,and GG) were detected in the rs208679 locus.Frequencies of A and G alleles in normal control group and noise exposure group were 0.76 and 0.24 respectively.Genotype distribution in normal control group and noise exposure group showed no deviation from the Hardy-Weinberg equilibrium (P ＞0.05).There were no significant differences in gene polymorphism (AA,AG,and GG) and allelic frequencies (A and G) between normal control group and noise exposure group and between deaf group and non-deaf group (P ＞ 0.05).However,significant difference was observed between deaf group and non-deaf group in recessive analysis (GG vs AG + AA,P ＜ 0.05).Conclusion rs208679 is the predisposing gene to NIHL and can be used as the biomarker for NIHL susceptibility.