LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION THAT DELETES EXON-2 AND EXON-3 BY ALU-ALU RECOMBINATION

作者：KIGAWA K; KIHARA K; MIYAKE Y; TAJIMA S; FUNAHASHI T; YAMAMURA T; YAMAMOTO A

来源：Journal of Biochemistry, 1993, 113(3): 372-376.

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.

• 出版日期1993-3