Hereditary hemochromatosis: Generation of a transcription map within a refined and extended map of the HLA class I region

Journal Article · Thu Feb 01 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0054· OSTI ID:508331

Totaro, A; Grifa, A; Gasparini, P ^[1]

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1. and others

Hereditary hemochromatosis, a common severe inherited disease, maps to the short arm of chromosome 6 close to the HLA-A locus. Recently, linkage data on Italian and French populations confirmed this location, while a similar analysis on Australian and British populations located the gene closer to D6S105, a marker residing telomeric of HLA-A. To increase our knowledge on the region of highest linkage disequilibrium in our population and possibly to identify the disease gene, a 1.2-Mb detailed physical and transcription map was generated, spanning the HLA class I region. Thirty-eight unique cDNA fragments, retrieved following the hybridization of immobilized YACs to primary pools of cDNAs prepared from RNA of fetal brain, adult brain, liver, placenta, and the CaCo{sub 2} cell line, were characterized. All cDNA fragments were positioned in a refined and extended map of the human major histocompatibility complex spanning from HLA-E to approximately 500 kb telomeric of HLA-F. The localization of known genes was refined, and a new gene from the RNA helicase superfamily was identified. Overall, 14 transcription units in addition to the HLA genes have been detected and integrated in the map. Thirteen cDNA fragments show no similarity with known sequences and could be candidates for the disease. Their characterization and assessment for involvement in hemochromatosis are still under investigation. Seven new polymorphisms, some tightly linked to the disease, were also identified and localized. 29 refs., 2 figs., 3 tabs.

• OSTI ID: 508331
• Journal Information: Genomics, Vol. 31, Issue 3; Other Information: PBD: 1 Feb 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 6
GENETIC MAPPING
RESOLUTION
GENES
GENE MUTATIONS
TRANSCRIPTION
DNA-CLONING
STRUCTURE-ACTIVITY RELATIONSHIPS
DNA SEQUENCING
HISTOCOMPATIBILITY COMPLEX
IRON
METABOLISM
BIOLOGICAL MARKERS
HEREDITARY DISEASES
RECESSIVE MUTATIONS
METABOLIC DISEASES
STATISTICS
ELECTROPHORESIS
DNA HYBRIDIZATION