七个非综合征性听力损失家族的线粒体DNA A1555G突变
[Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss].
作者信息
Ou Qi-shui, Cheng Zu-jian, Yang Bin, Jiang Lin, Chen Jing
机构信息
Department of Laboratory Medicine, First Affiliated Hospital, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):550-4. doi: 10.3760/cma.j.issn.1003-9406.2009.05.017.
OBJECTIVE
To study mitochondrial DNA (mtDNA) A1555G mutation in seven families with nonsyndromic hearing loss (NSHL).
METHODS
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time-amplification refractory mutation system-quantitative PCR (ARMS-qPCR) were applied to detect mtDNA A1555G mutation in seven NSHL families. Related clinical data were also collected and analyzed.
RESULTS
The mtDNA A1555G mutation was detected in members from the maternal side, including heteroplasmy and homozygosis, others were negative for this mutation. The copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G correlated well with the degree of deafness (R = 0.341, P = 0.022 and R = 0.85, P = 0.015, respectively).
CONCLUSION
The mutation rate of the mtDNA A1555G is high in the NSHL patients, the mutation type include heteroplasmy and homozygosis. There is significant correlation between the mtDNA A1555G copy number and the severity of hearing loss.
目的
研究7个非综合征性听力损失（NSHL）家系中的线粒体DNA（mtDNA）A1555G突变。
方法
应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和实时扩增阻滞突变系统-定量PCR（ARMS-qPCR）检测7个NSHL家系中的mtDNA A1555G突变。同时收集并分析相关临床资料。
结果
在母系成员中检测到mtDNA A1555G突变，包括异质性和纯合性，其他成员该突变检测为阴性。mtDNA A1555G纯合或杂合突变的拷贝数与耳聋程度显著相关（R分别为0.341，P = 0.022和R = 0.85，P = 0.015）。
结论
NSHL患者中mtDNA A1555G突变率较高，突变类型包括异质性和纯合性。mtDNA A1555G拷贝数与听力损失严重程度之间存在显著相关性。
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