| 7个非综合征型耳聋家系患者的mtDNA A1555G突变分析 |
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| 引用本文： | 程祖建,杨滨,江凌,刘奇才,陈静,欧启水. 7个非综合征型耳聋家系患者的mtDNA A1555G突变分析[J]. 中国优生与遗传杂志, 2008, 16(3): 38-41 |
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| 作者姓名： | 程祖建 杨滨 江凌 刘奇才 陈静 欧启水 |
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| 作者单位： | 福建医科大学附属第一医院检验科,福建医科大学基因诊断研究室,福州,350005 |
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| 基金项目： | 福建医科大学校科研和教改项目 |
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| 摘 要： | 目的探讨非综合征型耳聋家系患者mtDNA A1555G突变及其临床特征。方法应用聚合酶链反应、限制性核酸内切酶酶切和DNA测序技术对7个非综合征型耳聋家系112个成员的mtDNA A1555G突变进行检测，并分析听力临床资料。结果7个家系中所有受检的母系成员mtDNA A1555G突变均为阳性，突变性质含同质性和异质性二种；非母系成员及配偶该突变为阴性。突变的性质与临床表型的有关。结论mtDNA A1555G突变可导致非综合征型耳聋和氨基糖苷类抗生素致聋，其突变性质含均质性和异质性两种，且与临床表型相关。
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| 关 键 词： | 非综合征型耳聋 线粒体DNA A1555G突变 家系 |
| 文章编号： | 1006-9534（2008）03-0038-04 |
| 收稿时间： | 2007-08-07 |
| 修稿时间： | 2007-08-07 |
Study of mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing impairment |
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| CHENG Zu-jian,YANG Bing,LIU Qi-cai,JIANG Lin,CHEN Jing,OU Qi-shui. Study of mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing impairment[J]. Chinese Journal of Birth Health & Heredity, 2008, 16(3): 38-41 |
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| Authors: | CHENG Zu-jian YANG Bing LIU Qi-cai JIANG Lin CHEN Jing OU Qi-shui |
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| Affiliation: | CHENG Zu - jian, YANG Bing, LIU Qi-cai, JIANG Lin, CHEN Jing, OU Qi -shui. ( Depertment of Laboratory Medicine, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China ) |
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| Abstract: | Objective： To Study of mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing impairment. Methods： Polymerase chain reaction restriction fragment length polymorphism （PCR - RFLP） and direct sequencing were applied to detect mtDNA A1555G in seven family of NSHL, The related clinical data were also collected and analyzed. Results： All of whom were from the maternal side, mtDNA A1555G are positive, others are negative. Conclusion： The mutation rate of the mtDNA A1555G is high in the NSHI patients, the mutation type conclude heteroplasmy and homozygosis. |
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| Keywords: | NSHL Mitochondrial DNA A1555G Family |
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