title: HL-A and disease.
abstract: Of more than 500 diseases or syndromes studied for HL-A markers, more than 40 are known to be associated with an allele of class I, II, or III. Seven are linked to the HL-A region: six are recessive (idiopathic hemochromatosis, C2, C4A, and C4B deficiencies, congenital and late-onset deficiencies) and one is dominant (spinocerebellar ataxia). In addition, insulin-dependent diabetes mellitus is also linked to HL-A with more than one single locus. HL-A typing is of practical interest for diagnosis of ankylosing spondylitis by B27 antigen determination and for prevention of idiopathic hemochromatosis by genotyping of siblings of the index case. Prenatal diagnosis of 21-OH deficiency by genotyping fetal cells permits genetic counseling. Indeed, the discovery of the relationship between HL-A and disease can be considered a new approach to medical genetics. Extensive use of HL-A technology will probably allow better prediction of risk and may elucidate the mechanisms of certain diseases. For the first time the study of one single immunogenetic system may have a significant effect on public health through the possibility of wide-scale prevention.
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D003165:Complement System Proteins / Q000235:genetics; D017977:Deltaretrovirus / Q000276:immunology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005802:Genes, MHC Class II; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics* / Q000276:immunology; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II / Q000235:genetics / Q000276:immunology; D006801:Humans; D007938:Leukemia / Q000235:genetics; D008297:Male; D009369:Neoplasms / Q000235:genetics; D012192:Retroviridae Infections / Q000235:genetics; D013167:Spondylitis, Ankylosing / Q000235:genetics
chemical_list: D006680:HLA Antigens; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II; D003165:Complement System Proteins