[线粒体DNA 1555位点突变程度与非综合征性听力损失临床表型的相关性]

[Correlation between degree of mitochondrial DNA 1555 mutation and clinical phenotype of nonsyndromic hearing loss].

作者信息

Cheng Zu-jian, Zhang Rong, Yang Bin, Liu Qi-cai, Jiang Ling, Chen Jing, Chen Yong, Ou Qi-shui

机构信息

Department of Laboratory Medicine, Department of Otolaryngology, First Affiliated Hospital, Department of Gene Diagnosis, Fujian Medical University, Fuzhou, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2009 Sep 29;89(36):2536-9.

PMID:20137613

Abstract

OBJECTIVE

To study the correlation between the number of mtDNA (mitochondrial DNA) copies containing mtDNA A1555G mutation site and phenotype and further elucidate the molecular genetic basis of phenotype diversity of nonsyndromic hearing loss.

METHODS

Real time-amplification refractory mutation system-quantitative PCR was employed to detect the number of mtDNA copies in mild type and mutant type of mtDNA 1555.

RESULTS

In the sporadic group, there was no significant correlation between mtDNA A1555G homogeneity mutation copies and phenotype (R = 0.001, P = 0.997) while significant correlation existed between mtDNA A1555G heteroplasmic mutations and phenotype (R = 0.771, P = 0.003). In the familial group there was significant correlation mtDNA 1555 homogeneity mutation copies and phenotype (R = 0.341, P = 0.022) and significant correlation existed between mtDNA 1555 heterogenicity mutation copies and phenotype (R = 0.85, P = 0.015).

CONCLUSION

There is significant correlation between the mtDNA A1555G mutation copies and the severity of hearing loss.

摘要

目的

研究含线粒体DNA（mtDNA）A1555G突变位点的mtDNA拷贝数与表型之间的相关性，进一步阐明非综合征性听力损失表型多样性的分子遗传基础。

方法

采用实时扩增阻滞突变系统-定量PCR检测mtDNA 1555温和型和突变型中的mtDNA拷贝数。

结果

在散发组中，mtDNA A1555G纯合突变拷贝数与表型之间无显著相关性（R = 0.001，P = 0.997），而mtDNA A1555G异质性突变与表型之间存在显著相关性（R = 0.771，P = 0.003）。在家族组中，mtDNA 1555纯合突变拷贝数与表型之间存在显著相关性（R = 0.341，P = 0.022），mtDNA 1555异质性突变拷贝数与表型之间存在显著相关性（R = 0.85，P = 0.015）。