[GJB2基因235delC单等位基因突变调节与线粒体A1555G突变相关的表型]
[GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation].
作者信息
Li Qi, Fang Ru-ping, Zhou Hong-gen, Dai Pu, Tian Li, Lin Di, Huang Qun, Song Jian-min
机构信息
Department of Otolaryngology and Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):194-7. doi: 10.3760/cma.j.issn.1003-9406.2010.02.017.
OBJECTIVE
To investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment.
METHODS
Audiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing.
RESULTS
Direct sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss.
CONCLUSION
The GJB2 mutations may be an aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.
目的
研究一个非综合征性耳聋家族，其中GJB2基因与线粒体基因之间的潜在相互作用似乎是听力障碍的原因。
方法
通过纯音听力测定法（PTA）进行听力学检查。采集该家系8名成员的血样。从白细胞中提取DNA。通过聚合酶链反应（PCR）扩增GJB2基因的编码区和线粒体DNA目标片段。对PCR产物进行测序分析。
结果
直接测序显示，先证者既有GJB2基因的235delC杂合突变，又有线粒体1555A到G突变。先证者有重度听力损失。其母系亲属在高频有感觉神经性听力损失或无听力损失。
结论
GJB2突变可能是与A1555G线粒体突变相关的非综合征性听力损失表型表达的一个加重因素。
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