[通过近亲结婚对一个中国大家庭中母系遗传的非综合征性听力损失患者的12S rRNA和tRNA-Ser（UCN）基因进行突变分析]
[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].
作者信息
Shu An-li, Ji Bao-hu, Qin Wei, Feng Guo-yin, Nie Yu-zheng, Liu Tao, He Lin
机构信息
Huaihua Medical College, Huaihua, Hunan, 418000 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):303-5.
OBJECTIVE
To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree.
METHODS
Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplified and detected by polymerase chain reaction (PCR) and directly sequencing respectively.
RESULTS
The result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region.
CONCLUSION
Sequence analysis confirmed that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.
目的
确定在一个中国大家系中导致听力损失的不同线粒体基因可能位点处的潜在突变。
方法
在获得知情同意后，采集了一个湖南家系的血样。使用试剂盒从外周血白细胞中提取基因组DNA。分别通过聚合酶链反应（PCR）扩增和直接测序检测目标片段。
结果
直接测序结果显示，该家系中12S rRNA基因存在A1555G突变，且其附近区域无人携带A7445G突变或其他突变。
结论
序列分析证实该家系携带A1555G突变。由于该家系部分成员曾接触过氨基糖苷类抗生素，A1555G突变可能在这个大家系听力损失的发病机制中起关键作用。
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