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The Finnish type of the LDL receptor gene mutation: Molecular characterization of the deleted gene and the corresponding mRNA
Author(s) -
Aalto-Setälä Katriina
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)80127-3
Subject(s) - exon , microbiology and biotechnology , gene , genetics , biology , southern blot , intron , genomic dna , mutation , allele
In one third of Finnish patients with the heterozygous form of familial hypercholesterolemia the disease is due to a gross deletion at the 3′‐end of the LDL receptor gene. The present study demonstrates that an 8‐kb deletion completely eliminates exons 16 and 17 and a part of exon 18. Cloning and partial sequencing of a DNA fragment from the mutated allele indicated that the 5′‐boundary of the deletion lies within intron 15 while the 3′‐breakpoint is located at nucleotide 3390 in exon 18. RNA blot hybridization studies revealed that the mutated allele encodes a truncated 4.2 kb mRNA (normal, 5.3 kb). This type of mutation has not been reported in other ethnic groups.