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Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas
Authors:Kimiko Yamakawa  Hisako Yanagi  Keijiro Saku  Jun Sasaki  Takaaki Okafuji  Yae Shimakura  Koichi Kawai  Shigeru Tsuchiya  Kohki Takada  Setsuya Naito  Kikuo Arakawa  Hideo Hamaguchi
Institution:(1) Department of Human Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba 305, Japan;(2) Institute of Clinical Medicine, University of Tsukuba, Tsukuba 305, Japan;(3) Institute of Community Medicine, University of Tsukuba, Tsukuba 305, Japan;(4) Department of Internal Medicine, School of Medicine, Fukuoka University, 814-01 Fukuoka, Japan;(5) Department of Internal Medicine, School of Medicine, Hiroshima University, Hiroshima 734, Japan
Abstract:Summary To assess the relationship between relatively severe hereditary hypercholesterolemia with Achilles tendon xanthomas and the defect of the low density lipoprotein (LDL) receptor gene, family studies were carried out in 17 hypercholesterolemic families. In 16 out of the 17 families, hypercholesterolemia co-segregated with four different gross rearrangements, six different restriction fragment length polymorphism (RFLP) haplotypes, or an abnormal TaqI band of the LDL receptor gene. These findings are compatible with the interpretation that hypercholesterolemia is caused by defective LDL receptor genes, and that the origin of the mutant LDL receptor genes in Japanese generally differs among different pedigrees. In the remaining family, the proband and his sibling, both having relatively severe hypercholesterolemia and Achilles tendon xanthomas, shared an RFLP haplotype, although the proband's other sibling with moderate hypercholesterolemia but without Achilles tendon xanthomas did not. The mutant gene for familial defective apolipoprotein B-100 was not detected in the 17 probands. These data suggest that most, if not all, of the relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas is caused by a defect of the LDL receptor gene.
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