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Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia
Authors:Kimiko Yamakawa  Kohki Takada  Hisako Yanagi  Shigeru Tsuchiya  Koichi Kawai  Soichi Nakagawa  Goro Kajiyama  Hideo Hamaguchi
Institution:(1) Department of Human Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 305 Tsukuba, Japan;(2) Institute of Community Medicine, University of Tsukuba, 305 Tsukuba, Japan;(3) Institute of Clinical Medicine, University of Tsukuba, 305 Tsukuba, Japan;(4) The First Department of Internal Medicine, Hiroshima University, School of Medicine, 734 Hiroshima, Japan;(5) Toride-Kyodo Hospital, 302 Toride, Japan
Abstract:Summary The low-density lipoprotein (LDL) receptor genes from 18 unrelated Japanese heterozygotes and 1 homozygote with classical familial hypercholesterolemia were analyzed by Southern blot hybridization using fragments of the human LDL receptor cDNA as probes. Four different deletion mutations were detected among 20 mutant LDL receptor genes (20%); they were characterized by restriction mapping. None of these mutations has previously been reported in Caucasian patients with FH: three of the mutations were novel and one was similar to the detetion mutation of FH-Tonami described previously in Japanese patients. In three of the four deletion mutations, the rearrangements were related to intron 15 of the LDL receptor gene, in which many Alu sequences exist. The data suggest that a wide range of molecular heterogeneity exists even in major rearrangements resulting in deletions in the LDL receptor gene. The data also support the hypothesis that there are preferential sites within the LDL receptor gene for major rearrangements resulting in deletions. The possibility that a higher frequency of deletion mutations occurs in classical FH than previously suspected is discussed.
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