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X-linked retinitis pigmentosa: re-evaluation of fundus findings and the use of haplotype analysis in clarification of carrier female status.
Bech-Hansen, N T; Pearce, W G.
Afiliação
  • Bech-Hansen NT; Molecular Genetics Unit, Alberta Children's Hospital, University of Calgary, Canada.
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.
Assuntos
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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
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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