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The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families
Author(s) -
Skretting Grethe,
Blomhoff Jan P.,
Solheim Jorun,
Prydz Hans
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)80795-i
Subject(s) - transversion , sterol o acyltransferase , exon , lecithin , lecithin—cholesterol acyltransferase , genetics , acyltransferase , mutation , biology , gene , cholesterol , polymerase chain reaction , microbiology and biotechnology , chemistry , biochemistry , apolipoprotein b , lipoprotein
Three of the original Norwegian lecithin:cholesterol acyltransferase (LCAT) deficiency families have been investigated for mutations in the gene for lecithin:cholesterol acyltransferase by DNA sequencing of the exons amplified by the polymerase chain reaction. A single T→A transversion in codon 252 in exon 6 converting Met(ATG) to Lys(AAG) was observed in all homozygotes. In spite of the identical mutation, the disease phenotypes differed in severity. This was not reflected in the expression of LCAT in the heterozygotes.