X-linked retinitis pigmentosa: re-evaluation of fundus findings and the use of haplotype analysis in clarification of carrier female status.
Ophthalmic Genet
; 16(3): 113-8, 1995 Sep.
Article
em En
| MEDLINE
| ID: mdl-8556280
ABSTRACT
The identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know their status, it has not been possible to achieve such a level of success. A review and reanalysis of previous reports indicated that if a tapetal-like reflex was not present in those age 35 years or less, the likelihood of identifying a carrier by fundus examination was small. A family with 7 females with a 50% risk of being a carrier of X-linked RP was evaluated using haplotype analysis in an attempt to identify the X chromosome carrying the RP gene. In the family described, it was possible to establish that a mutation in the RP3 locus most likely causes the disease. This has permitted the determination of the carrier status in each of the females with a high degree of certainty.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Haplótipos
/
Retinose Pigmentar
/
Fundo de Olho
/
Heterozigoto
/
Ligação Genética
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Canadá