[一个患有X连锁隐性少汗型外胚层发育不良家族的遗传学诊断]
[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].
作者信息
Zhang Hui, Quan Cheng, Gao Min, Xiao Feng-Li, Lu Wen-Sheng, Shen Yu-Jun, Zhou Fu-Sheng, Yang Sen, Zhang Xue-Jun
机构信息
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei 230032, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Apr;29(2):201-4.
OBJECTIVE
To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia
METHODS
Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.
RESULTS
Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.
CONCLUSION
The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.
目的
鉴定一个患有X连锁隐性少汗型外胚层发育不良的家系中ED1基因的突变情况。
方法
采用聚合酶链反应扩增两名临床确诊为X连锁隐性少汗型外胚层发育不良患者及其父母以及100名无亲缘关系的匹配对照的ED1基因的8个编码外显子。产物进一步通过直接测序进行分析。
结果
该家系中两名患有X连锁隐性少汗型外胚层发育不良的患者在核苷酸1045处出现点突变（A>G）。同时，在其母亲中发现相同位置核苷酸G和A的杂合双峰，但在其父亲和100名无亲缘关系的匹配对照中未发现。
结论
ED1基因的c.1045A>G突变可能是这个中国X连锁隐性少汗型外胚层发育不良家系的致病原因。
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