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Recurrent missense mutations at the first and second base of codon Arg 243 in human lipoprotein lipase in patients of different ancestries
Author(s) -
Ma Yuanhong,
Liu MingSun,
Chitayat David,
Bruin Taco,
Beisiegel Ulrike,
Benlian Pascale,
Foubert Luc,
De Gennes Jean Luc,
Funke Harald,
Forsythe Ian,
Blaichman Shirley,
Papanikolaou Maria,
Erkelens D. W.,
Kastelein John,
Brunzell John D.,
Hayden Michael R.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030109
Subject(s) - genetics , biology , missense mutation , gene , mutation , haplotype , stop codon , lipoprotein lipase , coding region , proband , genotype , biochemistry , enzyme
Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicronemia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and Chinese origin have a previously described Arg 243 His mutation while the patients of German and French descent have a novel Arg 243 Cys substitution in their LPL gene. Haplotype analysis is in favour of two separate origins for the Arg 243 Cys substitution which together with the Arg 243 His mutation would implicate three recurrent mutations involving the first and second nuclcotides of the codon encoding Arg 243 of the LPL gene. The recurrent mutations affecting the first and second nucleotide of CGC coding for the normal Arg residue are support for the high mutability of CpG dinucleotides within the LPL gene. © 1994 Wiley‐Liss, Inc.