Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.
Am J Hum Genet
; 55(5): 916-22, 1994 Nov.
Article
em En
| MEDLINE
| ID: mdl-7977353
A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538 and 5'-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Retinose Pigmentar
/
Ligação Genética
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
/
Aged
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Hum Genet
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Reino Unido
País de publicação:
Estados Unidos