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Article

[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Ma Ding-yuan, Sun Yun, Chen Yulin, Yang Bing, Cheng Jian, Huang Mei-lian, Zhang Jin, Zhang Jing-jing, Hu Ping, Lin Ying, Jiang Tao, Xu Zheng-feng

Abstract excerpt

OBJECTIVE: To develop a method for elucidating genetic basis of 21-hydroxylase deficiency. METHODS: Sanger sequencing of entire 21-hydroxylase coding gene CYP21A2 was carried out to detect point mutations, and multiplex ligation-dependent probe amplification (MLPA) and locus-specific PCR/enzyme restriction method were used to detect large deletions and conversion mutations. RESULTS: Nine children were analyzed....

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PMID: 23450479
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.012

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