title: Cloning of human prealbumin complementary DNA. Localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid polyneuropathy.
abstract: Prealbumin, a 55,000 Mr protein, is a normal constituent of human serum. In patients with familial amyloid polyneuropathy (FAP), an autosomal dominant disease, variant prealbumin molecules are found in association with systemic amyloid deposits. One variant prealbumin has a methionine for valine substitution at amino acid 30 and has been implicated in the pathogenesis of type 1 FAP. A prealbumin-specific complementary DNA clone has been isolated from an adult human liver library and used in Southern blot hybridization experiments to identify a unique NsiI restriction endonuclease site in the variant allele carried by type 1 FAP patients with the methionine for valine substitution. The complementary DNA clone has been used to analyse a panel of human-mouse and human--hamster somatic cell hybrid DNAs and localize the prealbumin gene to chromosome 18.
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000235:genetics*; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin; D004247:DNA; D004262:DNA Restriction Enzymes; C048503:ATGCAT-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific