Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genet Test
; 5(4): 339-43, 2001.
Article
em En
| MEDLINE
| ID: mdl-11960582
ABSTRACT
The GJB2 gene (or CX26 for connexin 26) is one of the major genes causing nonsyndromic sensorineural hearing loss (NSSNHL). More than 50 sequence variations have been identified as polymorphisms or associated with autosomal or recessive forms of deafness. Though a major mutation, 35delG, is easily detectable by PCR digest; it is often present in the compound heterozygous state in our population in trans with recurrent, but less frequent, mutations. The CX26 gene is composed of a single coding exon that facilitates sequencing strategies. However, for mutation screening purposes, it is necessary to use high-throughput and cost-effective genotyping methods. Therefore, we have assessed denaturing high-performance liquid chromatography (dHPLC) in patients with known mutations in the CX26 gene. We conclude that dHPLC analysis is suitable for rapid and reliable scanning of the gene in deaf patients.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Conexinas
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Genet Test
Assunto da revista:
GENETICA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
França