Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae · 2007
[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
СтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.
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.