Abstract
Abstract. Familial hypobetalipoproteinaemia (FHBL) is a dominant disorder of lipoprotein metabolism characterized by levels of apolipoprotein B‐carrying lipoproteins (VLDL, IDL and LDL) which are 50% of the normal levels in the heterozygotes and almost absent in the homozygotes. Several reports have recently shown that the underlying defect in FHBL involves different mutations in the apo B gene which lead to reduced levels of apo B mRNA or to the production of truncated forms of apo B having either a lower synthetic rate or a higher catabolic rate than normal apo B. We here present a three‐generation family with several FHBL members in which the linkage analysis shows absence of co‐segregation between apo B gene alleles and the hypocholesterolaemic phenotype. We conclude that a dominantly transmitted mutation in a gene other than that for apo B is responsible for the low plasma cholesterol levels. 1991 Blackwell Publishing Ltd
Original language | English (US) |
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Pages (from-to) | 41-47 |
Number of pages | 7 |
Journal | Journal of Internal Medicine |
Volume | 229 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1991 |
Externally published | Yes |
Keywords
- apolipoprotein B
- family studies
- hypobetalipoproteinaemia
ASJC Scopus subject areas
- Internal Medicine