RECURRENT MISSENSE MUTATIONS AT THE FIRST AND 2ND BASE OF CODON ARG(243) IN HUMAN LIPOPROTEIN-LIPASE IN PATIENTS OF DIFFERENT ANCESTRIES

Mutations in the lipoprotein lipase (LPL) gene are the most common cau se 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 th eir 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 nucleotides 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 mutabi lity of CpG dinucleotides within the LPL gene. (C) 1994 Wiley-Liss, In c.