Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa
- Western General Hospital, Edinburgh, Scotland (United Kingdom)
- Univ. of Nottingham (United Kingdom); and others
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{prime}-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. 33 refs., 2 figs., 2 tabs.
- OSTI ID:
- 56838
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue 5; Other Information: PBD: Nov 1994
- Country of Publication:
- United States
- Language:
- English
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