A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

European Journal of Human Genetics

Volumn 9, Issue 4, 2001, Pages 244-252

  Heath, Karen E ^a   Humphries, Steve E ^b   Middleton Price, Helen ^a   Boxer, Maureen ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Familial hypercholesterolaemia (FH); Genetic service; Low density lipoprotein receptor

Indexed keywords

APOLIPOPROTEIN B100; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; ASSAY; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEALTH SERVICE; HUMAN; MUTATION RATE; PATHOGENICITY; PATIENT REFERRAL; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TENDON; UNITED KINGDOM; XANTHOMA;

ADULT; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; CHILD; GENETIC SCREENING; GREAT BRITAIN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MOLECULAR BIOLOGY; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 0035058910     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200633     Document Type: Article

References (58)

1. Familial hypercholesterolaemia
2. The LDL receptor gene: A mosaic of exons shared with different proteins
3. Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia
4. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolaemia
5. A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolaemia: Sequence based, tabular and direct submission data handling
6. Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia
7. Familial ligand-defective apolipoprotein B: Identification of a new mutation that decreases LDL-receptor binding activity
8. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia
9. Identification and haplotype analysis of apolipoprotein B-100 Arg3500→Trp mutation in hyperlipidemic Chinese
10. Evidence for a third genetic locus causing familial hypercholesterolaemia: A non-LDLR, non-APOB kindred
11. A third major locus for autosomal dominant hypercholesterolaemia maps to 1p34. 1-p32
12. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred
13. Risk of fatal coronary heart disease in familial hypercholesterolaemia
14. Mortality in treated heterozygous familial hypercholesterolaemia: Implications for clinical management
15. What targets should lipid-modulating therapy achieve to optimise the prevention of coronary heart disease?
16. Hypercholesterolaemia in childhood
17. Familial hypercholesterolaemia (one form of type II hyperlipoproteinaemia). A study of its biochemical, genetic and clinical presentation in childhood
18. Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol
19. Rising cholesterol levels in children with familial hypercholesterolaemia
20. Evidence for a dominant gene that suppresses hypercholesterolaemia in a family with defective low-density lipoprotein receptors
21. Diagnosis of heterozygous familial hypercholesterolaemia. DNA analysis complements clinical examination and analysis of serum lipid levels
22. Phenotypic variation among familial hypercholesterolaemia heterozygous for either one of two Afrikaner found LDL receptor mutations
23. Evidence for a cholesterol-lowering gene in a French Canadian kindred with familial hypercholesterolaemia
24. A novel single base deletion in the LDLR gene (211 del G). Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes
25. Month-to-month variability of lipids, lipoproteins, and apolipoproteins and the impact of acute infection in adolescents
26. DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolaemia
27. Familial hypercholesterolaemia: Molecular, biochemical, and clinical characterisation of a French-Canadian paediatric population
28. Common founder mutation in the LDL-receptor gene causing familial hypercholesterolaemia in the Icelandic population
29. Documented need for more effective diagnosis and treatment of familial hypercholesterolaemia according to data from 502 heterozygotes in Utah
30. Spectrum of LDL receptor gene mutations in Denmark: Implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia
31. Molecular genetic testing for familial hypercholesterolemia: Spectrum of LDL receptor gene mutations in The Netherlands
32. Genetic screening for familial hypercholesterolemia in 1992-1997: Primarily younger patients in the care of family physicians
33. Clinical expression of familial hypercholesterolaemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
34. A simple, efficient method for the separate isolation of RNA and DNA from the same cells
35. A method for the rapid determination of hundred of apoE genotypes, combining simplified, optimised protocols from sample acquisition to PCR and restriction digestion analysis by microplate array diagonal gel electrophoresis (MADGE)
36. Utilities for high throughout use of the single strand conformational polymorphism method: Screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene
37. Universal Primer Quantitative Fluorescent Multiplex (UPQFM)-PCR: A method to detect major and minor rearrangements of the low-density lipoprotein receptor gene
38. A robust strategy for screening and confirmation of familial defective apolipoprotein B100
39. Hincll polymorphism detected by gene amplification
40. Rapid genetic testing of three polymorphisms in the low-density lipoprotein receptor gene and their use in a clinical genetic diagnostic service
41. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
42. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolaemia
43. Clinically applicable mutation screening in familial hypercholesterolaemia
44. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolaemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
45. Comparison of the genetic defect with LDL-receptor activity in culture cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolaemia
46. Genetic testing for familial hypercholesterolaemia: Practical and ethical issues
47. Proof of 'Disease Causing' mutation
48. The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolaemia
49. 1705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
50. Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolaemia in the United Kingdom
51. High prevalence of familial defective apolipoprotein B-100 in Switzerland
52. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolaemia
53. Identification of deletions in the human low-density lipoprotein receptor gene
54. Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia
55. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia (FH)
56. The psychological functioning of children with hypercholesterolaemia and their families
57. Familial Hypercholesterolaemia: A pilot study of parents and children's concerns
58. 1996 Psychosocial function during treatment for Familial Hypercholesterolaemia