Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 49-54, 2013.
Article
em Zh
| WPRIM
| ID: wpr-232207
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To develop a method for elucidating genetic basis of 21-hydroxylase deficiency.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>A rational method for detecting point mutations and large deletions/conversions of CYP21A2 gene has been established.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Sequência de Bases
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Esteroide 21-Hidroxilase
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Hiperplasia Suprarrenal Congênita
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Ordem dos Genes
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Diagnóstico
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Alelos
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Reação em Cadeia da Polimerase Multiplex
/
Genética
/
Genótipo
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Article