Strong allelic association between Sjoegren-Larsson syndrome and D17S805

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

OSTI ID:134099

Pigg, M; Jagell, S; Sillen, A ^[1]

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1. University Hospital, Uppsala (Sweden); and others

Sjoegren-Larsson Syndrom (SLS) is characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. It is an autosomal recessive trait that has been described in many populations, but is particularly frequent in the northern part of Sweden. A defect in the enzyme fatty alcohol: NAD+ oxidoreductase (FAD) has been suggested, but the molecular mechanism has not been elucidated. Based on linkage analysis and allelic association, the disorder has now been mapped to chromosome 17. Meiotic recombinations suggests that the gene is flanked by D17S805 on the centromeric and D17S783 and D17S925 on the telomeric side. These three markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p<0.0003) to D17S805 suggests that the mutation is located at a limited distance on the telomeric side of this marker. It is possible that the gene can be identified by functional complementation of SLS cells using YACs from this region. Alternatively, positional cloning should be possible in this presumable small area. The markers identified are close and informative enough to allow accurate genetic diagnosis.

• OSTI ID: 134099
• Report Number(s): CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0835
• Journal Information: American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
MENTAL DISORDERS
CONGENITAL DISEASES
HUMAN CHROMOSOME 17
GENETIC MAPPING
GENES
GENE MUTATIONS
DNA-CLONING
SWEDEN
OXIDOREDUCTASES
RECESSIVE MUTATIONS
BIOLOGICAL MARKERS
STATISTICS
GENETICS
ENZYMES
MEIOSIS
YEASTS