A common deletion at D6S265 in the hemochromatosis gene region

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

OSTI ID:134104

Pyper, W R; Burt, M J; Powell, L W ^[1]

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1. Queensland Institute of Medical Research and Department of Medicine, Brisbane (Australia); and others

Positional cloning of the hemochromatosis (HC) gene on chromosome 6p has utilized a number of highly polymorphic microsatellite markers. While the putative HC gene has been localized within 1 cM of HLA-A, definition of the genetic limits of the HC locus has been controversial. Isolation and characterization of additional markers within this region will enable construction of a physical map upon which the HC gene can located. D6S265 is one such microsatellite, physically mapped within 120 kb centromeric of HLA-A. Recombinant and linkage analysis of this dinucleotide repeat in 24 Australian families segregating for HC positioned D6S265 within 1 cM of the HC gene, while allele association analysis showed allele 1 to be significantly increased in HC patients ({chi}{sup 2}=41.4, p<0.001, RR=5.75). In 6 of the 24 HC families, a D6265 locus deletion was found to segregate with HLA-A25 and HLA-A26 alleles. The D6S265 locus deletion was not associated with expression of HC. This study enables us to exclude candidate HC genes from the deleted region involving D6S265, and gives further support for an area of instability in the HLA class I region.

• OSTI ID: 134104
• 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
AUSTRALIA
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
DIABETES MELLITUS
DNA-CLONING
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 6
INSTABILITY
IRON
METABOLIC DISEASES
METABOLISM
NUCLEOTIDES
PATIENTS
SEGREGATION
STATISTICS