定位于5q31-5q32的DFNA52的20个候选基因的突变筛查

doi:10.3724/SP.J.1005.2009.00043

遗传 ›› 2009, Vol. 31 ›› Issue (1): 43-49.doi: 10.3724/SP.J.1005.2009.00043

定位于5q31-5q32的DFNA52的20个候选基因的突变筛查

卜枫啸¹;彭聿¹;王树辉³;潘琼¹;胡正茂¹;龚惠勇¹;张静¹;邬玲仟¹;梁德生¹;
潘乾¹;冯永²;夏昆¹;夏家辉¹

1. 中南大学湘雅医院医学遗传学国家重点实验室, 长沙 410078;
2. 中南大学湘雅医院耳鼻咽喉科, 长沙 410078;
3. 中南大学湘雅二医院耳鼻咽喉科, 长沙 410011

收稿日期:2008-05-07 修回日期:2008-08-21 出版日期:2009-01-10 发布日期:2009-01-10
通讯作者: 冯永;夏昆

Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus

BU Feng-Xiao¹;PENG Yu¹;WANG Shu-Hui³;PAN Qiong¹;HU Zheng-Mao¹;GONG Hui-Yong¹;ZHANG Jing¹;WU Ling-Qian¹;LIANG De-Sheng¹;PAN Qian¹;FENG Yong²;XIA Kun¹;XIA Jia-Hui¹

1. National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China;
2. Department of Otolarynology Affiliated Xiangya Hospital, Central South University, Changsha 410078, China;
3. Department of Otolarynology Affiliated Xiangya 2nd Hospital, Central South University, Changsha 410011, China

Received:2008-05-07 Revised:2008-08-21 Online:2009-01-10 Published:2009-01-10
Contact: FENG Yong;XIA Kun

摘要/Abstract

摘要：

为了克隆定位于5号染色体微卫星标记D5S2056和D5S638之间约8.8 cM的区间内的非综合征性常染色体显性遗传性耳聋 DFNA52 (OMIM: 607683)的致病基因, 文章根据基因在耳蜗组织的表达情况, 筛选出20个候选基因, 设计合成了扩增20个基因外显子及外显子与内含子交界的引物, 用DNA直接测序法进行序列变异分析。结果显示, 在基因外显子及侧翼区共发现了45个单核苷酸多态, 其中42个变异在多态数据库已报道, 其余3个为新发现的单核苷酸多态, 序列变异与疾病表型无共分离现象, 排除了这些基因外显子突变导致遗传性耳聋的可能性。

关键词: 候选基因, DFNA52, 听力下降, 非综合症遗传性耳聋

Abstract:

Previously, we mapped the DFNA52 (OMIM: 607683) locus to an 8.8 cM interval between STR D5S2056 and D5S638 on human chromosome 5q31.1-q32 in a large consanguineous Chinese family with congenital sensorineural hearing loss. Positional candidate cloning approach was applied to analyze the candidate genes in this region. We analyzed 20 genes according to cochlear expression pattern, which were also located in the DFNA52 interval as candidate genes. Sequencing of the coding and splice site regions of these genes did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely virulence gene for DFNA52.

卜枫啸，彭聿，王树辉，潘琼，胡正茂，龚惠勇，张静，邬玲仟，梁德生，潘乾，冯永，夏昆，夏家辉，. 定位于5q31-5q32的DFNA52的20个候选基因的突变筛查[J]. 遗传, 2009, 31(1): 43-49.

BU Feng-Xiao, PENG Yu, WANG Shu-Hui, PAN Qiong, HU Zheng-Mao, GONG Hui-Yong, ZHANG Jing, WU Ling-Qian, LIANG De-Sheng, PAN Qian, FENG Yong. Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus[J]. HEREDITAS, 2009, 31(1): 43-49.

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定位于5q31-5q32的DFNA52的20个候选基因的突变筛查

Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus

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