母系遗传耳聋家系核心成员MTO1基因的突变筛查

Mutation Screening of MTO1 Genes of the Core Members from a Maternally Inherited Pedigree with Non-syndromic Deafness

根据MTO1基因序列及有关文献,采用Oligo6软件设计并合成了8对引物,扩增了淮阴母系遗传非综合征耳聋大家系10例母系成员(5例听力正常,5例具有严重耳聋症状)的MTO1基因12个外显子及其与内含子交界区的DNA片段.测序结果发现5例具有严重耳聋症状患者的MTO1基因与5例听力正常个体的MTO1基因相应序列完全一致,且与MTO1标准序列相比,无任何序列变化.推测MTO1基因可能不对该家系线粒体DNA A1555G突变具有核修饰效应.

Based on the DNA sequence of human MTO1 gene and some related references,eight pairs of prim-ers were designed and used to PCR amplify the 12 exons and intron-exon junctions of MTO1 genes,from 5 affected patients and 5 unaffected matrilineal relatives with A1555G mitochondrial mutation in the Chinese extensive family with nonsyndromic deafness in Huaiyin,Jiangsu province.The sequencing result showed that no any nucleotide changes were found in MTO1 genes from 10 matrilineal members with different clinical phenotypes,which excluded the possibility that MTO1 gene may modulate the phenotypes of A1555G muta-tion in this Chinese family.