Genetics of LCAT (lecithin:cholesterol acyltransferase) deficiency
- 1 January 1975
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 38 (3), 327-331
- https://doi.org/10.1111/j.1469-1809.1975.tb00617.x
Abstract
Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the disorder seems to be the presence of a LCAT deficiency gene in double dose. This gene is probably the result of a single mutational event. Linkage studies revealed non-random assortment between LCTA deficiency and serum haptoglobin (Hp) types. After Hp subtyping a combined lod score of 3-41 at a recombination fraction of 0-00 was obtained. Association was revealed between the LCAT deficiency gene and the Hp-1S gene. We propose that the LCAT gene is situated close to the alpha-haptoglobin locus on chromosome no. 16.Keywords
This publication has 12 references indexed in Scilit:
- Population structure in Norway Inbreeding, distance and kinshipHereditas, 2009
- Probable linkage of LCAT locus in man to the α haptoglobin locus on chromosome 16Nature, 1974
- Gpt-EBS1Linkage GroupHuman Heredity, 1974
- Identification of lipoprotein families in familial lecithin: Cholesterol acyltransferase deficiencyBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1973
- STUDIES OF LIPOPROTEIN‐X (LP‐X) AND BILE ACIDS IN FAMILIAL LCAT DEFICIENCYActa Medica Scandinavica, 1973
- Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: structure of low and high density lipoproteins as revealed by electron microscopyJCI Insight, 1971
- Plasma lipoproteins in familial lecithin:cholesterol acyltransferase deficiency: lipid composition and reactivity in vitroJCI Insight, 1970
- Probable Assignment of the Alpha Locus of Haptoglobin to Chromosome 16 in ManNature, 1969
- Familial Plasma Lecithin:Cholesterol Acyltransferase DeficiencyBMJ, 1969
- FAMILIAL PLASMA CHOLESTEROL ESTER DEFICIENCYActa Medica Scandinavica, 1968