A new highly polymorphic marker in the 5′ untranslated region of HLA-F shows strong allelic association with haemochromatosis

Human Genetics

Volumn 97, Issue 2, 1996, Pages 228-231

  Raha Chowdhury, R ^a   Bowen, D J ^a   Worwood, M ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PURINE;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GENE FREQUENCY; GENES, MHC CLASS I; GENETIC MARKERS; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HLA-A3 ANTIGEN; HUMANS; MALE; MINISATELLITE REPEATS; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0030023375     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265271     Document Type: Article

References (15)

1. Abderrahim H, Sambucy J-L, Iris F, et al (1994) Cloning the human major histocompatibility complex in YACs. Genomics 23:520-527
2. Gasparini P, Borgato L, Pipemo A, et al (1993) Linkage analysis of 6p21 polymorphic markers and the hereditary hemochro-matosis: localization of the gene centromeric to HLA-F. Hum Mol Genet 2:571-576
3. Geraghty DE, Wei X, Orr HT, Koller BH (1990) Human leukocyte antigen F (HLA-F). An expressed HLA gene composed of a class I coding sequence linked to a novel transcribed repetitive element. J Exp Med 171:1-18
4. Gruen JR, Goei VL, Summers KM, et al (1992) Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE). Genomics 14:232-240
5. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW (1993) Localisation of the hemochromatosis sene close to D6S105. Am J Hum Genet 53:347-352
6. Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, Halliday JW, Powell LW (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433
7. Levinson G, Gutman GA (1987) Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 4:203-221
8. Raha-Chowdhury R, Tigue NJ, Worwood M (1994) Trinucleotide repeat microsatellite in the 5′ untranslated resion of HLA-F. Hum Mol Genet 3:2084
9. Raha-Chowdhury, Bow en DJ, Burnett AK, Worwood M (1995) Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. J Med Genet 32:446-452
10. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17: 332-334
11. Simon M, Le Mignon L, Fauchet R, Genetet B (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 41:89-105
12. Tirwari JL, Terasaki PI (1985) HLA and disease associations. Springer, Berlin Heidelberg New York
13. Volz A, Boyle JM, Cann H, Cottingham RW, Orr HT, Ziegler A (1994) Report of the Second International Workshop on Human Chromosome 6. Genomics 21:464-472
14. Worwood M, Raha-Chowdhury R, Dorak MT, Darke C, Bowen DJ, Burnett AK (1994) Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. Br J Haematol 86:863-866
15. Yaouanq J, Perichon M, Chorney M, et al (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 54:252-263