title: The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA.
abstract: 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.
authors.affiliation: Recombinant DNA Laboratory, University of Helsinki, Finland.
authors.forename: K
authors.initials: K
authors.lastname: Aalto-Setälä
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D005387:Finland; D005796:Genes; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010957:Plasmids; D012333:RNA, Messenger / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*; D012016:Reference Values
chemical_list: D012333:RNA, Messenger; D011973:Receptors, LDL