一例耳聋患者及其家庭成员的基因突变分析

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武警医学 ›› 2024, Vol. 35 ›› Issue (2) : 161-164.

临床经验总结

一例耳聋患者及其家庭成员的基因突变分析

闫兰竹¹, 林静², 孙晓彤¹, 李东坤¹, 侯兵兵³, 乔顺义¹

作者信息 +

Gene mutation analysis of a deaf patient and his family members

YAN Langzhu, LIN Jing, SUN Xiaotong, et al

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摘要

耳聋是人类最常见的出生缺陷之一,在新生儿中发生率约为1‰,其中50%~70%是由遗传因素引起的,可导致非综合征型耳聋(占70%,仅听力损失)与综合征型耳聋(占30%,听力损失伴其他组织器官病变)。该文通过对一例耳聋先证者及其家庭成员耳聋易感基因检测结果进行分析,研究耳聋基因的特点及遗传在该家庭耳聋致病因素中的作用。结果发现,先证者及其家庭成员为mtDNA基因位点7445A>G突变,与测序结果一致。

关键词

耳聋基因 / 线粒体DNA / 母系遗传

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闫兰竹, 林静, 孙晓彤, 李东坤, 侯兵兵, 乔顺义. 一例耳聋患者及其家庭成员的基因突变分析[J]. 武警医学. 2024, 35(2): 161-164

YAN Langzhu, LIN Jing, SUN Xiaotong, et al　. Gene mutation analysis of a deaf patient and his family members[J]. Medical Journal of the Chinese People Armed Police Forces. 2024, 35(2): 161-164

中图分类号： R764

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