𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia

✍ Scribed by M.S. Nauck; W. Köster; K. Dörfer; J. Eckes; H. Scharnagl; H. Gierens; H. Nissen; M.A. Nauck; H. Wieland; Winfried März

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
58 KB
Volume
18
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 exons and their flanking intronic sequences including the promoter region of the LDL-R gene using a combination of polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE) and direct sequencing. In addition we tested all patients for the presence of mutations in codons 3456 -3553 of the gene encoding apolipoprotein B-100. In 56 individuals we detected 37 different mutations affecting the LDL-R gene, 16 of which, designated C122R, C127Y, C163W, F179L, R236W, E296X, R553C, V618D, T721I, V785D, G1358+2A, 257delTCTGGAGGT, 657delC, 676insACGGTATGGACTGCAdelGACG, C1205delTCT, 2420delTCCTTCT, have not yet been reported. One proband was a compound heterozygote showing two separate sequence variations (E207X and T705I). Seven patients were heterozygous for the mutation R3500Q within the apoB-100 gene. These results demonstrate that there is a broad spectrum of mutations in the LDL-R gene and that the R3500Q mutation is a frequent cause of hypercholesterolemia in the German population.

📜 SIMILAR VOLUMES

Identification of recurrent and novel mu
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia
✍ Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José González-Boni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor ge

Identification of recurrent and novel mu
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia
✍ Hiroaki Hattori; Makoto Nagano; Fujihiko Iwata; Yasuhiko Homma; Tohru Egashira; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

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

Spectrum of LDL receptor gene mutations
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
✍ INM Day; RA Whittall; SD O'Dell; L Haddad; MK Bolla; V Gudnason; SE Humphries 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 2 views

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

Mutation analysis in 36 unrelated Spanis
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene
✍ Pilar Mozas; Ana Cenarro; Fernando Civeira; Sergio Castillo; Emilio Ros; Miguel 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

We used the single strand conformation polymorphism (SSCP) method to investigate 36 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein receptor (LDLR) g

Identification of two LDL receptor mutat
Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects
✍ Tester F. Ashavaid; Altaf A. Kondkar; Kappiareth G. Nair 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3,