Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
J Med Genet
; 33(5): 371-5, 1996 May.
Article
em En
| MEDLINE
| ID: mdl-8733045
ABSTRACT
The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional CYP21P gene. Using the amplification created restriction site (ACRS) approach for direct mutational detection, a secondary PCR was then performed using a panel of primers specific for each of the 11 known mutations associated with CAH. Subsequent restriction analysis allowed not only the detection but also the determination of the zygosity of the mutations analysed. Existing deletion of the CYP21 gene could also be detected. In the analysis of 20 independent chromosomes in 11 families of CAH patients in Taiwan, four CYP21 mutation types, besides deletion, were detected. Interestingly, in five different alleles, the CYP21P pseudogene contained some polymorphisms generally associated with the CYP21 gene. These results suggest gene conversion events that are occurring in both CYP21P and CYP21 genes. Our combined differential PCR-ACRS protocol is simple and direct and is applicable for prenatal diagnosis of CAH using chorionic villi or amniotic cells.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteroide 21-Hidroxilase
/
Hiperplasia Suprarrenal Congênita
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Humans
/
Male
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
China