CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Hum Genet
; 106(4): 414-9, 2000 Apr.
Article
en En
| MEDLINE
| ID: mdl-10830908
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase (CYP21) gene. To develop a strategy to screen for the most commonly occurring CYP21 mutations in Brazil, we performed molecular genotype analysis on 73 children with CAH representing 71 unrelated families. The techniques used for CYP21 molecular genotype analysis were: restriction fragment length polymorphism, single-strand conformational polymorphism, allele-specific oligonucleotide hybridization, allele-specific polymerase chain reaction amplification, and heteroduplex analyses. Mutations were identified on all but eight affected alleles. The intron 2 splicing mutation was the most frequently identified mutation. Screening for the most common mutations detected at least one mutation on 132/142 (93%) alleles. Multiple CYP21 mutations were detected on 16.2% of alleles. The high frequency of multiple mutations on a single allele emphasizes the importance of thorough and accurate molecular genotype analysis of the complex CYP21 locus.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esteroide 21-Hidroxilasa
/
Hiperplasia Suprarrenal Congénita
/
Mutación
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Hum Genet
Año:
2000
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Alemania