| 一个中国耳聋家系的SLC26A4基因分析 |
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| 引用本文： | 胡浩,梁德生,邬玲仟,冯永,蔡芳,夏昆,潘乾,龙志高,戴和平,夏家辉. 一个中国耳聋家系的SLC26A4基因分析[J]. 中华医学遗传学杂志, 2005, 22(4): 376-379 |
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| 作者姓名： | 胡浩 梁德生 邬玲仟 冯永 蔡芳 夏昆 潘乾 龙志高 戴和平 夏家辉 |
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| 作者单位： | 1. 410078,长沙,中南大学中国医学遗传学国家重点实验室
2. 410078,长沙,中南大学中国医学遗传学国家重点实验室;中南大学附属湘雅医院耳鼻喉科 |
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| 基金项目： | 国家重点基础研究发展规划项目（2001CB510302） |
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| 摘 要： | 目的 确定一个非综合征型耳聋家系的致病基因。方法 应用聚合酶链反应-直接测序方法，对溶质转运蛋白家族26，成员4（solute carrier family 26，member 4；SLC26A4）基因的所有外显子及其与内含子交界处进行测序寻找突变。结果 在该家系先证者发现SLC26A4基因的N392Y、S448X复合杂合突变，其父亲为S448X的杂合突变，其母亲为N392Y的杂合突变。结论 SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因。
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| 关 键 词： | 中国 耳聋 家系疾病 SLC26A4基因 基因突变 |
| 修稿时间： | 2004-12-20 |
Molecular analysis of SLC26A4 gene in a Chinese deafness family |
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| HU Hao,LIANG De-Sheng,WU Ling-Qian,FENG Yong,CAI Fang,XIA Kun,PAN Qian,LONG Zhi-gao,DAI He-ping,XIA Jia-hui. Molecular analysis of SLC26A4 gene in a Chinese deafness family[J]. Chinese journal of medical genetics, 2005, 22(4): 376-379 |
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| Authors: | HU Hao LIANG De-Sheng WU Ling-Qian FENG Yong CAI Fang XIA Kun PAN Qian LONG Zhi-gao DAI He-ping XIA Jia-hui |
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| Affiliation: | National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China. |
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| Abstract: | Objective To identify the pathogenic gene for a non-syndromic hearing loss family. Methods Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene. Results Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother. Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene. |
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| Keywords: | deafness SLC26A4 gene mutation |
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