Premium
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians
Author(s) -
Kotze Maritha J.,
Loubser Odell,
Thiart Rochelle,
Villiers J. Nico P.,
Langenhoven Elzet,
Theart Leonora,
Steyn Krisela,
Marais A. David,
Raal Frederick J.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02497.x
Subject(s) - genetics , missense mutation , haplotype , familial hypercholesterolemia , biology , exon , ldl receptor , locus (genetics) , gene , mutation , genomic dna , allele , lipoprotein , cholesterol , endocrinology
Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The novel mutations are transversions of C to G and A to T at nucleotide positions 1215 (N384K) and 2356 (S765C), respectively. The known mutations were detected in CpG dinucleotides at bases 661 and 682, respectively, in the mutation‐rich exon 4 of the LDLR gene. Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype. Analysis of published mutations including our new data has shown that more than 50% of the different LDLR gene mutations identified to date in South African Indians occur at CpG hotspots.