title: Tangier disease: heterozygote detection and linkage analysis.
abstract: A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The results of the linkage analysis, while varying with the diagnostic criterion used, yield no evidence of linkage to any of the markers studied. Tight linkage (less than 5 cM) to RH, MNSS, GPT, and GLO is ruled out by all criteria.
mesh_terms: D000328:Adult; D016632:Apolipoprotein A-I; D001053:Apolipoproteins / Q000032:analysis; D001054:Apolipoproteins A; D001789:Blood Group Antigens / Q000235:genetics; D002784:Cholesterol / Q000032:analysis; D008076:Cholesterol, HDL; D002874:Chromosome Mapping; D003241:Consanguinity; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000032:analysis; D008126:Lod Score; D008297:Male; D010375:Pedigree; D013631:Tangier Disease / Q000145:classification / Q000235:genetics*
chemical_list: D016632:Apolipoprotein A-I; D001053:Apolipoproteins; D001054:Apolipoproteins A; D001789:Blood Group Antigens; D008076:Cholesterol, HDL; D005819:Genetic Markers; D008075:Lipoproteins, HDL; D002784:Cholesterol