Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

Journal Article · Fri Jul 01 00:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6821685

Teague, P W; Aldred, M A; Dempster, M; Harrison, C; Carothers, A D; Hardwick, L J; Evans, H J; Wright, A F; Strain, L; Brock, D J.H. ^[1]

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1. Univ. of Edinburgh (United Kingdom); and others

Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P=.001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability >.70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability >.8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where two loci are separated by an estimated 16 cM. 34 refs., 1 fig., 4 tabs.

• OSTI ID: 6821685
• Journal Information: American Journal of Human Genetics; (United States), Vol. 55:1; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN POPULATIONS
GENETIC VARIABILITY
HUMAN X CHROMOSOME
GENETIC MAPPING
RETINA
HEREDITARY DISEASES
BIOLOGICAL VARIABILITY
BODY
BODY AREAS
CHROMOSOMES
DISEASES
EYES
FACE
HEAD
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
ORGANS
POPULATIONS
SENSE ORGANS
X CHROMOSOME
550400* - Genetics