Application of long polymerase chain reaction in the study of the LDL receptor gene

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 56, Issue 1, 1996, Pages 93-96

  Rodningen O K ^a   Leren, T P ^a  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

Author keywords

Familial hypercholesterolaemia; LDL receptor; Long PCR; Mutations; RFLP

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CHROMOSOME ABERRATION; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TECHNIQUE;

EID: 0030062079     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/00365519609088593     Document Type: Article

References (10)

1. Müller C. Angina pectoris in hereditary xanthomatosis. Arch Intern Med 1939; 64: 675-700.
2. Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Baudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989: 1215-50.
3. Barnes WM. PCR amplification of up to 35 kb DNA with high fidelity and high yield from λ templates. Proc Natl Acad Sci USA 1994; 91: 2216-20.
4. Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci USA 1994; 91: 5695-9.
5. Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985; 228: 815-22.
6. Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP. A 9.6 kb deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects. Clin Genet 1992; 42: 288-95.
7. Aalto-Setälä K, Helve E, Kovanen PT. Kontula K. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest 1989; 84: 499-505.
8. Leitersdorf E, Chakravarti A, Hobbs HH. Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet 1989; 44: 409-21.
9. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990; 85: 1014-23.
10. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, et al. The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984; 39: 27-38.