Screening of Mitochondrial DNA Mutations in Subjects with Non-syndromic Familial Hearing Impairment in Taiwan

臺灣非症候群性聽力障礙家族粒線體基因突變之分析

朱紹盈(Shao-Yin Chu) ； 蔣書娟(Shu-Chuan Chiang) ； 簡穎秀(Yin-Hsiu Chien) ； 胡務亮(Wuh-Liang Hwu)

《Acta Paediatrica Taiwanica》 43卷6期 (2002/12) Pp. 330-333

https://doi.org/10.7097/APT.200212.0330

摘要

聽力障礙的臨床表現差異性非常大，其中有百分之五十是來自遺傳因素。而遺傳性聽障當中，除體染色體的病變之外，目前已知來自粒線體基因病變也佔了一個很重要的角色。粒線體基因病變造成的聽障又依是否合併其他器官的病變分爲症候群性及非症候群性聽障，在台灣他們的發生率並不清楚。本文於36個月內共收集了十個非症候群性聽力障礙家族，依文獻上所報告的常見粒線體基因的病變爲主，利用分子生物學的方法，分析其週邊白血球的粒線體基因。結果如下：有六個家族找到病變，其中四個家族爲12S rRNA基因1555A→G、一個家族爲tRNA(上標 Ser)7511T→C、另一家族則爲7444G→A的突變。高達百分之六十的家族找到病變，顯示在非症候群性聽力障礙中粒線體基因的病變佔有一個很重要的角色。

關鍵字

非症候群性聽力障礙 ； 粒線體基因病變

並列摘要

Background and purpose: Mitochondrial DNA (mtDNA) mutation is an important cause of hearing impairment, but its prevalence in Taiwan is not clear. The purpose of this study is to identify mtDNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan. Methods: During a period of 36 months, 10 families with non-syndromic hearing impairment were enrolled. Screening of mutations in the mtDNA, 12S rRNA, and tRNA(superscript Ser) genes were carried out by polymerase chain reaction, restriction enzyme digestion, and direct sequencing. Results: Among the 10 families examined, four were found to have 1555A→G mutation in the 12S rRNA gene, one had 7511T→C mutation in the tRNA(superscript Ser) gene, and one had 7444G→A mutation of mtDNA. Conclusion: Up to 60% of families had mtDNA mutations in this study. Therefore, mtDNA mutation seems to be an important cause of non-syndromic familial hearing impairment in Taiwan.

並列關鍵字

non-syndromic hearing impairment ； mitochondrial DNA mutation