title: Low-density lipoprotein receptor mutation that deletes exons 2 and 3 by Alu-Alu recombination.
abstract: A deletion mutant in the low density lipoprotein receptor gene of a Japanese patient with heterozygous familial hypercholesterolemia was analyzed. Genomic Southern blotting showed abnormal size restriction fragments with BamHI (7.8 kb), EcoRI (3.8 kb), BglII (17 kb), KpnI (> 23 kb), EcoRV (13 kb), and XbaI (14 kb). The abnormal EcoRI fragment, 3.8 kb, was cloned into lambda phage vector, and the deleted region of 10 kb including exons 2 and 3 was identified. The nucleotide sequence around the deletion joint was determined. The sequence of the eight nucleotides in the deletion-joint region of the mutant gene was identical to the corresponding sequences of both introns 1 and 3 of the normal gene. The deletion seemed to occur by an unequal recombination between the Alu-like sequences in the same direction in introns 1 and 3.
authors: Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Osaka.
authors: K
authors: K
authors: Kigawa
authors: K
authors: K
authors: Kihara
authors: Y
authors: Y
authors: Miyake
authors: S
authors: S
authors: Tajima
authors: T
authors: T
authors: Funahashi
authors: T
authors: T
authors: Yamamura
authors: A
authors: A
authors: Yamamoto
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
chemical_list: D011973:Receptors, LDL; D004247:DNA