[一个非综合征性听力障碍家系的基因定位]
[Gene mapping of a nonsyndromic hearing impairmint family].
作者信息
Cheng Lin, Gong Yaoqin, Liu Qiji, Chen Bingxi, Guo Chenhong, Li Jiangxia, Zhang Xiyu, Lu Yong, Gao Guimin, Zhou Haibin, Guo Yishou
机构信息
Department of Medical Genetics, Medical School of Shandong University, Jinan, Shandong, 250012 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):89-93.
OBJECTIVE
To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.
METHODS
Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region.
RESULTS
The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5.07 cM interval bounded by D17S1850 and D17S1818.
CONCLUSION
The disease gene of the family is mapped to a 5.07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.
目的
在一个近亲家庭中定位导致非综合征性听力障碍的基因。
方法
首先，采用X染色体扫描排除X染色体。其次，通过纯合性定位进行候选基因分析和基因组扫描。然后，对紧密连锁标记两侧的附加标记进行检测，以确认连锁关系并确定候选区域。
结果
该家庭的非综合征性听力障碍为常染色体隐性遗传。排除了25个已知基因。常染色体基因组扫描表明，D17S1293与疾病基因紧密连锁。进一步研究将疾病基因定位到由D17S1850和D17S1818界定的5.07 cM区间。
结论
该家庭的疾病基因定位到D17S1850和D17S1818之间的5.07 cM区间，这是常染色体隐性非综合征性听力障碍的一个新位点。
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