caa a22 4500 467983852 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195807 doi (NATIONALLICENCE)springer-10.1007/BF00195807 The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family [Elektronische Daten] [John Kastelein, Jonathan Haines, Michael Hayden] Summary: High-density lipoprotein (HDL) cholesterol levels have an inverse relationship with the frequency of coronary and cerebrovascular disease. Most commonly HDL deficiency is environmentally modulated. Familial hypoalphalipoproteinemia (FHA) is a genetically determined HDL deficiency disease, in all likelihood transmitted as an autosomal dominant trait and associated with premature atherosclerosis. Apolipoprotein AI (apo AI) is the major apoprotein in the HDL particle, and defects in this protein have been suggested as the cause of FHA. We have identified a large family of Spanish descent with FHA and performed genetic linkage analysis using restriction fragment length polymorphisms in the Apo AI-CIII-AIV gene cluster to test this hypothesis. Results in this family formally exclude the apo AI-CIII-AIV gene cluster as the site for the mutation underlying FHA. Springer-Verlag, 1990 Kastelein John Department of Medical Genetics, Room F 168 — University Hospital, 2211 Wesbrook Mall, University of British Columbia, V6T 2B5, Vancouver, BC, Canada aut Haines Jonathan Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA aut Hayden Michael Department of Medical Genetics, Room F 168 — University Hospital, 2211 Wesbrook Mall, University of British Columbia, V6T 2B5, Vancouver, BC, Canada aut Human Genetics Springer-Verlag 84/5(1990-04-01), 396-400 0340-6717 84:5<396 1990 84 439 https://doi.org/10.1007/BF00195807 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195807 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kastelein John Department of Medical Genetics, Room F 168 — University Hospital, 2211 Wesbrook Mall, University of British Columbia, V6T 2B5, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Haines Jonathan Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Hayden Michael Department of Medical Genetics, Room F 168 — University Hospital, 2211 Wesbrook Mall, University of British Columbia, V6T 2B5, Vancouver, BC, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 396-400 0340-6717 84:5<396 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer