[常染色体显性遗传性扩张型心肌病伴传导缺陷致病基因定位的遗传连锁分析]
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect].
作者信息
Xu Wei, Zhang Bao-Rong, Hu Zheng-Mao, Pan Qian, Liu Xiao-Ping, Liang De-Sheng, Wu Ling-Qian, Cai Fang, Long Zhi-Gao, Xia Kun, Xia Jia-Hui
机构信息
National Laboratory of Medical Genetics, Central South University, Changsha, China.
出版信息
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Oct;30(5):510-4.
OBJECTIVE
To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect.
METHODS
A Chinese family which was diagnosed as dilated cardiomyopathy with conduction defect was studied. Venous blood (3 - 5 mL) from some family members was collected, and genomic DNA was extracted from the blood. Then whole genome wide scan was performed after excluding the known markers on the candidate loci (CMD1A, CMD1 E, CMD1F, and CMD1H) by two-point linkage analysis.
RESULTS
No significant evidence for linkage was found in the two point linkage analyses to the known markers in the analyzed family. And the whole genome wide scan showed the maximum LOD score reached 2.68 at marker D3S1614 ( at recombination fraction theta = 0).
CONCLUSION
The related gene in this kindred is located on 3q26 other than on CMD1A, CMD1H, CMD1E, and CMD1F.
目的
定位伴有传导缺陷的常染色体显性遗传性扩张型心肌病的基因。
方法
研究一个被诊断为伴有传导缺陷的扩张型心肌病的中国家系。采集部分家庭成员的静脉血（3 - 5毫升），从血液中提取基因组DNA。然后在通过两点连锁分析排除候选基因座（CMD1A、CMD1E、CMD1F和CMD1H）上的已知标记后，进行全基因组扫描。
结果
在分析的家系中，两点连锁分析未发现与已知标记有显著连锁证据。全基因组扫描显示，在标记D3S1614处（重组率θ = 0时）最大对数优势分数达到2.68。
结论
该家系中的相关基因位于3q26，而非CMD1A、CMD1H、CMD1E和CMD1F所在位置。
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