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Identification of a deletion in the LDL receptor gene A Finnish type of mutation
Author(s) -
Aalto-setälä Katriina,
Gylling Helena,
Miettinen Tatu,
Kontula Kimmo
Publication year - 1988
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(88)80635-5
Subject(s) - restriction enzyme , microbiology and biotechnology , exon , restriction fragment length polymorphism , southern blot , gene , biology , familial hypercholesterolemia , genetics , restriction site , complementary dna , mutation , ldl receptor , recombinant dna , restriction fragment , intron , polymerase chain reaction , lipoprotein , endocrinology , cholesterol
A cDNA probe for the low density lipoprotein (LDL) receptor gene was used to screen DNA samples from 52 unrelated Finnish patients with the heterozygous form of familial hypercholesterolemia (FH) and 51 healthy controls. Southern blot analysis using the restriction enzyme Pvu II revealed an abnormal 11 kb (kilo base‐pair) restriction fragment in 16 (31%) of the patients but none of the controls. A more detailed restriction enzyme analysis of the DNA from patients revealed a mutation which apparently is due to an 8 kb deletion extending from intron 15 to exon 18 of the LDL receptor gene. Co‐segregation of FH with the mutated gene was demonstrated in three families. These data are consistent with a ‘founder gene effect’ and support the assumption that recombinant DNA methods may have great impact on the diagnostics of FH in genetically homogeneous populations.