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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):49-54. doi: 10.3760/cma.j.issn.1003-9406.2013.01.012.

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

[Article in Chinese]

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Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.



To develop a method for elucidating genetic basis of 21-hydroxylase deficiency.


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.


Nine children were analyzed. Point mutations of the CYP21A2 gene have been identified as: IVS2 13A/C>G (9 alleles), p.Arg356Trp (1 allele), Cluster E6 (1 allele), p.Gln318X (1 allele), and Prom conv (1 allele). While the former 4 mutations are pathogenic, the role of Prom conv mutation in the pathogenesis was uncertain. Three cases had entire CYP21A2 gene deletions (3 alleles), three had CYP21A1P/CYP21A2 chimeric mutations (3 alleles). The genotypes of all patients were determined. And all of the mutations were inherited from parents.


A rational method for detecting point mutations and large deletions/conversions of CYP21A2 gene has been established.

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