Title: Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions
Abstract: Hobbs et al. ( N. Engl. J. Med . 317: 734–737, 1987) reported a large deletion of approximately 10 kilobases in the 5′ portion of the human low‐density lipoprotein (LDL) receptor gene. This deletion affects about 60% of familial hypercholesterolemia (FH) heterozygotes in the French Canadian population. We have developed a rapid, convenient method for the detection of the deletion using double digestion with the restriction enzymes Xbal and EcoRV, or triple digestion with Xbal, EcoRV and XmnI, and a 650 bp cDNA probe, radio‐labeled using a random oligonucleotide primer technique. Eighty French Canadian FH heterozygotes were screened for the presence of the deletion. Forty‐seven (59%) of them were found to carry the 10 kb deletion. Using the same method, we also identified a new mutation which was found in four of the 80 (5%) FH patients. This mutation has been found to be a 5 kb deletion removing exons 2 and 3 of the LDL receptor gene, which correspond to the first two repeats of the LDL receptor binding domain. Cosegregation of the 5 kb deletion and the FH phenotype was observed in one family. Possible structure‐function relationship is discussed.
Publication Year: 1989
Publication Date: 1989-10-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 74
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