title: Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia.
abstract: DNA samples from 60 unrelated UK patients with familial hypercholesterolaemia (FH) were screened by Southern blot hybridisation to detect gross alterations in the low density lipoprotein (LDL) receptor gene. One patient was found to have a 2kb deletion in the 3' part of the gene. The deletion cosegregates with the FH phenotype in his family. This finding is compatible with the deletion being the cause of FH in this case and makes a presymptomatic test based on DNA analysis available for this family. The defects in most of the other patients are likely to be due to point mutations.
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: A M
authors.initials: AM
authors.lastname: Kessling
authors.forename: M
authors.initials: M
authors.lastname: Seed
authors.forename: V
authors.initials: V
authors.lastname: Wynn
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D004587:Electrophoresis, Agar Gel; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; D004247:DNA; D004262:DNA Restriction Enzymes