RFLPs of the LDL-receptor gene: Their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects

European Journal of Epidemiology

Volumn 8, Issue 1 Supplement, 1992, Pages 18-25

  Bertolini, S ^a   Coviello, D A ^a   Masturzo, P ^a   Zucchetto, E ^a   Elicio, N ^a   Balestreri, R ^a   Orecchini, G ^b   Calandra, S ^c   Humphries, S ^d  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d Rayne Institute   (United Kingdom)

Author keywords

Familial hypercholesterolemia; LDL receptor gene; Polymorphism

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AGED; ALLELES; AUTORADIOGRAPHY; COMPARATIVE STUDY; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HUMAN; HYPERCHOLESTEROLEMIA, FAMILIAL; LIPOPROTEINS, LDL CHOLESTEROL; MALE; MIDDLE AGE; POLYMORPHISM (GENETICS); POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, LDL; REFERENCE VALUES; SUPPORT, NON-U.S. GOV'T;

EID: 0026732023     PISSN: 03922990     EISSN: 15737284     Source Type: Journal    
DOI: 10.1007/BF00145345     Document Type: Article

References (29)

1. Construction of a genetic linkage map in man using restriction fragment length polymorphisms
2. A strategy for using multiple linked markers for genetic counseling
3. Nonuniform recombination within the human beta globin gene cluster
4. Evidence for increased recombination near the human insulin gene: implication for disease association studies
5. PvuII polymorphism of LDL receptor gene and Familial hypercholesterolemia
6. Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia
7. A new ApaLI restriction fragment length polymorphism in the low density lipoprotein receptor gene
8. Familial Hypercholesterolemia
9. Three RFLPs upstream of the low density lipoprotein receptor (LDLR) gene
10. Linkage disequilibrium between DNA markers at the low-density lipoprotein receptor gene
11. Identification of LDL receptor gene marker associated with altered levels of LDL cholesterol and apolipoprotein B in baboons
12. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
13. Gene probes in diagnosis of familial hypercholesterolemia
14. Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama
15. Familial hypercholesterolemia: a family with divergence of clinical phenotype and biochemical genotype based on fibroblast studies
16. Haplotypes identified by 10 DNA restriction fragment lenght polymorphisms at the human low density lipoprotein receptor gene locus
17. Pediatric implication of heterozygous familial hypercholesterolemia
18. Polymorphic DNA haplotypes at the LDL receptor locus
19. Human LDL receptor gene: HincII polymorphism detected by gene amplification
20. Common low-density lipoproteins receptor mutations in the French Canadian population
21. The interaction of selection and linkage. I. General considerations: heterotic models
22. Normal DNA polymorphism at the low density lipoprotein receptor (LDL-R) locus associated with serum cholesterol levels
23. Association of DNA-haplotypes in the human LDL receptor gene with normal serum cholesterol levels
24. Familial defective apolipoprotein B-100. Comparison with Familial Hypercholesterolemia in 18 cases detected in Munich
25. Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of Familial Hypercholesterolemia
26. A StuI RFLP upstream of the low density lipoprotein receptor (LDLR) gene
27. A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations