甘肃省特有少数民族的聋病基因突变流行病学分析

Epidemiological Analysis of Gene Mutations in Deafness among Endemic Ethnic Minorities in Gansu Province

目的分析甘肃省3个特有少数民族感音神经性聋人群的常见聋病基因的突变频率,比较其与汉族聋人的突变流行频率差异,揭示少数民族的聋病分子流行病学状况。方法采用Sanger测序法检测GJB2基因第2外显子,SLC26A4基因第8、第19外显子以及线粒体DNA12SrRNA 1555A>G和1494C>T突变,分析其突变频率。结果东乡族、保安族、裕固族和汉族的GJB2基因、SLC26A4基因和mtDNA12SrRNA总突变频率是27.66%、20.00%、36.36%和41.48%,东乡族和汉族的突变频率差异有统计学意义(P=0.025);这4个民族的GJB2基因突变频率是25.53%、10.00%、18.18%和20.45%,东乡族和汉族的突变频率差异无统计学意义(P=0.339);4个民族的GJB2基因c.235delC突变的等位基因频率是4.26%、0、4.55%和10.80%,东乡族和汉族的等位基因频率差异有统计学意义(P=0.009);4个民族的SLC26A4基因第8和第19外显子突变频率是2.13%、10.00%、9.09%和13.07%,东乡族和汉族的突变频率差异有统计学意义(P=0.003);4个民族的SLC26A4基因c.919-2A>G的等位基因频率是2.13%、0、9.09%和7.39%,东乡族和汉族差异存在统计学意义(P=0.011)。在东乡族、保安族和裕固族中没有发现m.1555A>G突变,在裕固族中检测到1例m.1494C>T突变,其突变频率为9.09%。结论甘肃省3个特有少数民族具有独特的常见聋病基因突变谱,需要根据各民族的聋病基因流行情况制定基因诊断策略。

Objective To analyze the mutation frequency of common deafness genes in three endemic ethnic minorities with sensorineural deafness in Gansu Province,compare the difference in mutation frequency between them and Han deaf people,and reveal the molecular epidemiological status of deafness in ethnic minorities.Methods The Sanger sequencing method was used to detect mutations in the second exon of GJB2 gene,the 8th and 19th exons of SLC26A4 gene,and mitochondrial DNA12SrRNA 1555A>G and 1494C>T,and analyze their mutation frequencies.Results The total mutation frequencies of GJB2 gene,SLC26A4 gene,and mtDNA12SrRNA in Dongxiang,Bao'an,Yugu,and Han ethnic groups were 27.66%,20.00%,36.36%,and 41.48%,respectively.The difference in mutation frequencies between Dongxiang and Han ethnic groups was statistically significant(P=0.025).The mutation frequencies of the GJB2 gene in these four ethnic groups were 25.53%,10.00%,18.18%,and 20.45%,and there was no statistically significant difference in mutation frequencies between the Dongxiang and Han ethnic groups(P=0.339).The allele frequencies of c.235delC mutations in the GJB2 gene among four ethnic groups were 4.26%,0,4.55%,and 10.80%,respectively.There was a statistically significant difference in allele frequencies between the Dongxiang and Han ethnic groups(P=0.009).The mutation frequencies of exons the 8th and 19th of the SLC26A4 gene in four ethnic groups were 2.13%,10.00%,9.09%,and 13.07%,respectively.There was a statistically significant difference in mutation frequencies between the Dongxiang and Han ethnic groups(P=0.003).The allele frequencies of the SLC26A4 gene c.919-2A>G in four ethnic groups were 2.13%,0,9.09%,and 7.39%,respectively.There was a statistically significant difference between the Dongxiang and Han ethnic groups(P=0.011).No m.1555A>G mutation was found in the Dongxiang,Bao'an,and Yugu ethnic groups.One case of m.1494C>T mutation was detected in the Yugu ethnic group,with a mutation frequency of 9.09%.Conclusion The three endemic ethnic minorities in Gansu Province have a endemic spectrum of common deafness gene mutations,and genetic diagnosis strategies need to be developed based on the prevalence of deafness genes in each ethnic group.