Genetic and physical mapping in the Darier`s disease region at 12q23-q24.1

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134126

Strachan, T; Carter, S; Bryce, S ^[1]

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

Darier`s disease (keratosis follicularis; MIM 124200) is a dominantly inherited skin disorder in which there appears to be abnormal adhesion between keratinocytes. We and others have shown that the disease in some British pedigrees is closely linked to markers mapping to 12q23-q24.1. In the present study, we provide further evidence for locus homogeneity by finding statistically significant evidence for close linkage to 12q23-q24.1 markers in each of several large pedigrees drawn from more than a dozen European pedigrees, with cumulative lod scores of over 20 for several markers. Crossover analysis has mapped the disease locus to a small interval which is flanked centromerically by D12S105 and telomerically by D12S129. This interval may be expected to be of the order of about 4 cM or less, on the basis of linkage data obtained using the primary CEPH reference families. We also report on long-range restriction mapping analyses on patient material using probes which map to the 12q23-q24.1 region.

• OSTI ID: 134126
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CROSSING-OVER
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
KERATIN
PATIENTS
PROBES
SKIN DISEASES
STATISTICS