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Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

作者信息

Seller M J, Behnam J T, Lewis C M, Johnston R L, Burdon M A, Spalton D J

机构信息

Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.

出版信息

J Med Genet. 1997 Dec;34(12):967-72. doi: 10.1136/jmg.34.12.967.

DOI:10.1136/jmg.34.12.967
PMID:9429135
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051144/
Abstract

Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29. We have genotyped nine British families with the disease using 12 polymorphic microsatellite markers from this region. Linkage and haplotype analysis shows the OPA1 gene to be located in a 2.3 cM interval between markers D3S1601 and D3S2748. One family showed no evidence of linkage with the chromosome 3 markers, suggesting for the first time that locus heterogeneity for this disease may exist, although exclusion for linkage is based on unaffected subjects. In addition, analysis of recombinants has enabled us to order the 12 markers along chromosome 3.

摘要

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本文引用的文献

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