An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia
(1995) In Human Genetics 96(2). p.147-150- Abstract
- Familial hypercholesterolemia (FH) is an autosomal semi-dominant disorder caused by defects in the low density lipoprotein receptor (LDLR) gene and is a well-documented risk factor for developing cardiovascular disease. The LDLR genes of five Swedish children with FH were examined in this study. Initial mutation screening was performed by denaturing gradient gel electrophoresis (DGGE) with enzymatically amplified exon-sized fragments, each containing a tailing GC-rich requence. The GC-clamped fragments had been synthesized with a restriction site adjacent to the intron-corresponding sequence to allow detachment of the clamps, thereby rendering the fragments suitable for subsequent analysis by single-strand conformation polymorphism (SSCP)... (More)
- Familial hypercholesterolemia (FH) is an autosomal semi-dominant disorder caused by defects in the low density lipoprotein receptor (LDLR) gene and is a well-documented risk factor for developing cardiovascular disease. The LDLR genes of five Swedish children with FH were examined in this study. Initial mutation screening was performed by denaturing gradient gel electrophoresis (DGGE) with enzymatically amplified exon-sized fragments, each containing a tailing GC-rich requence. The GC-clamped fragments had been synthesized with a restriction site adjacent to the intron-corresponding sequence to allow detachment of the clamps, thereby rendering the fragments suitable for subsequent analysis by single-strand conformation polymorphism (SSCP) analysis of samples from patients with no DGGE-detectable mutations. In addition, all the LDLR genes of the patients were screened for large alterations by restriction fragment length polymorphism analysis. Following this strategy, seven different, potentially disease-causing mutations were detected in the five children with FH. Six of the alterations, five single-base substitutions and one dinucleotide deletion, have not previously been described. DGGE detected six of the mutations and SSCP the seventh. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1109026
- author
- Ekström, Ulf LU ; Abrahamson, Magnus LU ; Sveger, Tomas LU ; Lombardi, Paola and Nilsson-Ehle, Peter LU
- organization
- publishing date
- 1995
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Genetics
- volume
- 96
- issue
- 2
- pages
- 147 - 150
- publisher
- Springer
- external identifiers
-
- pmid:7635461
- scopus:0029059348
- ISSN
- 1432-1203
- DOI
- 10.1007/BF00207370
- language
- English
- LU publication?
- yes
- id
- d23fd94b-ff6e-41ff-b6a0-7e23dec45f8f (old id 1109026)
- date added to LUP
- 2016-04-01 16:48:46
- date last changed
- 2021-05-23 05:17:39
@article{d23fd94b-ff6e-41ff-b6a0-7e23dec45f8f, abstract = {{Familial hypercholesterolemia (FH) is an autosomal semi-dominant disorder caused by defects in the low density lipoprotein receptor (LDLR) gene and is a well-documented risk factor for developing cardiovascular disease. The LDLR genes of five Swedish children with FH were examined in this study. Initial mutation screening was performed by denaturing gradient gel electrophoresis (DGGE) with enzymatically amplified exon-sized fragments, each containing a tailing GC-rich requence. The GC-clamped fragments had been synthesized with a restriction site adjacent to the intron-corresponding sequence to allow detachment of the clamps, thereby rendering the fragments suitable for subsequent analysis by single-strand conformation polymorphism (SSCP) analysis of samples from patients with no DGGE-detectable mutations. In addition, all the LDLR genes of the patients were screened for large alterations by restriction fragment length polymorphism analysis. Following this strategy, seven different, potentially disease-causing mutations were detected in the five children with FH. Six of the alterations, five single-base substitutions and one dinucleotide deletion, have not previously been described. DGGE detected six of the mutations and SSCP the seventh.}}, author = {{Ekström, Ulf and Abrahamson, Magnus and Sveger, Tomas and Lombardi, Paola and Nilsson-Ehle, Peter}}, issn = {{1432-1203}}, language = {{eng}}, number = {{2}}, pages = {{147--150}}, publisher = {{Springer}}, series = {{Human Genetics}}, title = {{An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia}}, url = {{http://dx.doi.org/10.1007/BF00207370}}, doi = {{10.1007/BF00207370}}, volume = {{96}}, year = {{1995}}, }