Article
[Prenatal gene diagnosis of oculocutaneous albinism type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2006
Li Hong-yi, Wu Weiq-ing, Zheng Hui, Duan Hong-lei, Chen Zheng, Chen Lu-ming
Abstract excerpt
OBJECTIVE: Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1). METHODS: To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families. RESULTS: The patient or...
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