【摘要】 目的:在一对非综合征型耳聋夫妇家系中进行耳聋易感基因的突变筛查,找出确诊家系成员的致病基因及分型。方法:收集家系成员病史及全身检查资料等,提取外周血DNA进行等位基因多重PCR,基因芯片筛查。结果:先证者及其父辈的基因型均为野生型,先证者妻子及其母亲母系成员的基因型均为线粒体DNA 12S rRNA 1555 A> G均质突变型,先证者夫妇的2个子女虽听力正常,但是基因型检测结果也均为线粒体DNA 12S rRNA 1555 A> G均质突变型。结论:线粒体DNA 12S rRNA基因突变可能是导致该家系发生耳聋的致病因素。更多还原

【Abstract】 Objective: To analyze the genetic characteristic of a couple with nonsyndromic hearing impairment from families, to screen the mutations of susceptibility deafness genes, and to identify genotypingof mutational genes. Methods: The data about diseases history and physical examinations of members from the families were collected. And genomic DNA was extracted from peripheral blood samples of the family members. The DNA target fragments were amplified by polymerase chain reaction(PCR) for detecting the gene mutations with DNA microarray. Results: The genotypes of the proband and his father were all wild genotypes, but proband’s wife and his mother’s family members all carried the mitochondrial DNA 12 S rRNA 1555 A > G gene mutation. Although the two children of the proband couple were normal in hearing, the genotype detected results also showed that two children had the same mutations with mitochondrial DNA 12 S rRNA 1555 A >g. Conclusion: The mutation with mitochondrial DNA 12 S rRNA was probable one of the major factors resulting deafness in the family.更多还原