Am J Hum Genet. 1982 Jan;34(1):65-72.

Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

Abstract

"Rocket" immunoelectrophoresis using specific anti-lecithin: cholesterol acyltransferase (LCAT) antiserum showed no immunoreactive protein in two patients with familial LCAT deficiency. Subnormal quantity of plasma LCAT was found in the maternal grandmother, the parents, and in two of four siblings of the patients (3.3-3.4 mg/l vs. 5.4 +/- 0.5 mg/l in 12 controls). The immunochemical quantitation of the enzyme correlated well (r = .93) with LCAT activity in an artificial substrate assay. These two methods allow detection of heterozygotes for LCAT deficiency.

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PMCID:: PMC1685214

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Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. [Hum Genet. 1981]
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Review Lecithin: cholesterol acyl transferase (LCAT).
Frohlich J, McLeod R, Hon K. Clin Biochem. 1982 Dec; 15(6):269-78.

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Cited by 1 PubMed Central article

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. [J Clin Invest. 1993]
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U. J Clin Invest. 1993 Feb; 91(2):677-83.

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