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An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia
Author(s) -
Schlüter Gregor,
Wick Ursula
Publication year - 1994
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.1399-0004.1994.tb03999.x
Subject(s) - familial hypercholesterolemia , exon , proband , ldl receptor , genetics , ecori , gene , biology , microbiology and biotechnology , breakpoint , mutation , southern blot , restriction enzyme , lipoprotein , endocrinology , cholesterol , chromosome
DNA analysis of the low density lipoprotein receptor (LDLR) gene was performed in two persons with familial hypercholesterolemia (FH). Southern blot experiments indicated the heterozygous loss of an EcoRI site in exon 5 of the LDLR gene. Upon amplification and sequencing of exon 5 in both probands, an 87‐bp deletion in a heterozygous state could be evaluated. This is a novel mutation, most probably leading to the formation of a nonfunctional LDLR. Analysis of the deletion breakpoints revealed the presence of a six‐base‐pair consensus sequence 5′TG A /G A /G G /T A /C 3 ′, which is characteristic of small deletions in different genetic defects.