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为了克隆定位于5号染色体微卫星标记D5S2056和D5S638之间约8.8 cM的区间内的非综合征性常染色体显性遗传性耳聋DFNA52(OMIM:607683)的致病基因,文章根据基因在耳蜗组织的表达情况,筛选出20个候选基因,设计合成了扩增20个基因外显子及外显子与内含子交界的引物,用DNA直接测序法进行序列变异分析。结果显示,在基因外显子及侧翼区共发现了45个单核苷酸多态,其中42个变异在多态数据库已报道,其余3个为新发现的单核苷酸多态,序列变异与疾病表型无共分离现象,排除了这些基因外显子突变导致遗传性耳聋的可能性。
In order to clone the causative genes of non-syndromic autosomal dominant deafness DFNA52 (OMIM: 607683) located in the interval of about 8.8 cM between chromosome 5 microsatellite markers D5S2056 and D5S638, 20 candidate genes were screened out and 20 primers were designed and synthesized to amplify the exons of exon and exon to intron. DNA sequencing was used to analyze the sequence variation. The results showed that a total of 45 single nucleotide polymorphisms were found in the exons and flanking regions of the gene, of which 42 were reported in the polymorphic database and the remaining three were single nucleotide polymorphisms (SNPs) newly discovered, with sequence variation Co-segregation with the disease phenotype precludes the possibility of genetic deafness due to mutations in these exons.