Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by several different mutations in the low density lipoprotein (LDL) receptor gene. This large number of different mutations, often undetectable in Southern blotting, makes it impossible directly to diagnose the dis
Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia
✍ Scribed by H. Schuster; B. Stiefenhofer; G. Wolfram; C. Keller; S. Humphries; A. Huber; N. Zöllner
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 468 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0340-6717
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Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19
We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberran
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 detect