Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 916-22 |
| Number of pages | 7 |
| Journal | American Journal of Human Genetics |
| Volume | 55 |
| Issue number | 5 |
| Publication status | Published - Nov 1994 |
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Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. / Aldred, M A; Dry, K L; Knight-Jones, E B; Hardwick, L J; Teague, P W; Lester, D H; Brown, J; Spowart, G; Carothers, A D; Raeburn, J A.
In: American Journal of Human Genetics, Vol. 55, No. 5, 11.1994, p. 916-22.Research output: Contribution to journal › Article
TY - JOUR
T1 - Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa
AU - Aldred, M A
AU - Dry, K L
AU - Knight-Jones, E B
AU - Hardwick, L J
AU - Teague, P W
AU - Lester, D H
AU - Brown, J
AU - Spowart, G
AU - Carothers, A D
AU - Raeburn, J A
PY - 1994/11
Y1 - 1994/11
N2 - 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.
AB - 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.
M3 - Article
VL - 55
SP - 916
EP - 922
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 5
ER -