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J. Biochem, 1993, Vol. 113, No. 3 372-376
© 1993 Japanese Biochemical Society

research-article

Low-Density Lipoprotein Receptor Mutation That Deletes Exons 2 and 3 by Alu-Alu Recombination1

Koji Kigawa*,2, Kayo Kihara*,2, Yasuko Miyake*, Shoji Tajima**,3, Tohru Funahashi***, Taku Yamamura* and Akira Yamamoto*

*Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Suita, Osaka 565
**Institute for Protein Research, Osaka University Suita, Osaka 565
***Second Department of Internal Medicine, School of Medicine, Osaka University, Osaka 565

3To whom correspondence should be addressed.

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 BamEI (7.8 kb), EcoKL (3.8 kb), BgHI (17 kb), Kpnl (> 23 kb), EcoRV (13 kb), and Xbal (14 kb). The abnormal EcoBI fragment, 3.8 kb, was cloned into X 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.

3K.K. and K.K. are research trainees from the Research and Development Department, Chemical Division, Daikin Industries, Ltd., Settsu, Osaka 566.

1This work was supported by a Grant-in-Aid from the Ministry of Health and Welfare of Japan


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