Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia

Molecular and Cellular Probes

Volumn 14, Issue 5, 2000, Pages 299-304

  Thiart, R ^a,b   Varret, M ^c   Lintott, C J ^d   Scott, R S ^d   Loubser, O ^b   Du Plessis, L ^b   De Villiers, Jnp ^a,b   Boileau, C ^c   Kotze, M J ^a,b  

^a MRC Cape Heart Group   (South Africa)

^b UNIVERSITY OF STELLENBOSCH   (South Africa)

^c INSERM   (France)

^d CHRISTCHURCH HOSPITAL   (New Zealand)

Author keywords

Apolipoprotein B; Autosomal dominant hypercholesterolemia; Familial hypercholesterolemia; Low density lipoprotein receptor

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN RECEPTOR; LYMPHOCYTE RECEPTOR; NUCLEOTIDE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; NEW ZEALAND; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED KINGDOM;

EID: 0033767377     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.2000.0318     Document Type: Article

References (30)

1. Familial defective apolipoprotein B-100: Lowdensity lipoproteins with abnormal receptor binding
2. Familial hypercholesterolemia
3. Molecular genetics of the LDL receptor gene in familial hyperchlesterolaemia
4. Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolemia
5. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
6. Familial ligand-defective apolipoprotein B: Identification of a new mutation that decreases LDL receptor binding affinity
7. Cutaneous xanthoma in association with paraproteinemia in the absence of hyperlipidaemia
8. A simple method for DNA purification from peripheral blood
9. Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes
10. Screening for mutations in exon 4 of the LDL receptor gene: Identification of a new deletion mutation
11. Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis
12. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
13. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
14. Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutation
15. Variable number of tandem repeat (VNTR) markers for human gene mapping
16. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100
17. A three codon inserion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (apo B) gene directly typed by the polymerase chain
18. Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds
19. Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene
20. Clinically applicable mutation screening in familial hypercholesterolemia
21. Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary heart disease
22. Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics
23. Spectrum of LDL Receptor gene mutations in heterozygous familial hypercholesterolemia
24. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred
25. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia
26. A third major locus for autosomal dominant hypercholesterolemia maps at 1p34.1-p32
27. A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26
28. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
29. Familial defective apolipoprotein B-100 is rare in South African Afrikaners, Coloureds and Indians