[寻常型鱼鳞病常染色体显性遗传家系致病基因定位]
[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
作者信息
Hu Zheng-mao, Xie Zhi-guo, Wu Ling-qian, Liang De-sheng, Zhu Hai-yan, Pan Qian, Long Zhi-ga, Dai He-ping, Xia Jia-hui, Xia Kun
机构信息
National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Jun;29(3):302-6.
OBJECTIVE
To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).
METHODS
Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.
RESULTS
A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.
CONCLUSION
The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
目的
阐明一个常染色体显性寻常型鱼鳞病（IV）家系中的致病基因。
方法
利用1号染色体上的STR标记进行连锁分析，并采用突变检测筛选FLG基因突变。
结果
在D1S2696处获得最大两点连锁lod值为3.46（θ=0）。单倍型分析将关键区域定位在由D1S2726和D1S305定义的15厘摩区间内，但在我们的IV型患者中未发现FLG基因突变。
结论
该IV型家系的致病基因位于D1S2696附近，FLG基因不能排除在致病基因之外。
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