Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Clinical Chemistry

Volumn 45, Issue 9, 1999, Pages 1424-1430

  Kim, Sung Han ^a   Bae, Ji Hyun ^a   Chae, Jae Jin ^a   Kim, Un Kyung ^a   Choe, Seong Joon ^b   Namkoong, Yong ^c   Kim, Hyo Soo ^b   Park, Young Bae ^b   Lee, Chung Choo ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Gangneung Wonju National University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE PROTEIN; CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; KOREA; LIPOPROTEIN METABOLISM; MALE; POLYMERASE CHAIN REACTION; RECEPTOR GENE; SCHOOL CHILD; SOUTHERN BLOTTING;

EID: 0032848102     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.9.1424     Document Type: Article

References (37)

1. Goldstein JS, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed. New York: McGraw-Hill, 1995:1981-2030.
2. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein LL, Russell DW. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984;39:27-38.
3. Russell DW, Lehrman MA, Südhof TC, Yamamoto T, Davis CG. The LDL receptor in familial hypercholesterolemia. Use of human mutations to dissect a membrane protein. Cold Spring Harbor Symp Quant Biol 1987;51:811-9.
4. 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 Investig 1989;84:499-505.
5. Miyake Y, Tajima S, Funahashi T, Yamamoto A. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. J Biol Chem 1989;264:16584-90.
6. Soutar AK, Knight BL, Patel DD, Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc Natl Acad Sci U S A 1989;86:4166-70.
7. Yamakawa K, Takada K, Yanagi H, Tsuchiya S, Kawai K. Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. Hum Genet 1989;82:317-21.
8. Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia. Annu Rev Genet 1990;24:133-70.
9. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992;1:445-6.
10. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Investig 1990;85:1014-23.
11. Pavia). Am J Hum Genet 1992;51:123-34.
12. Rüdiger NS, Heinsvig EM, Hansen FA, Færgeman O, Bolund L, Gregersen N. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia. Clin Genet 1991;39:451-62.
13. Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the LDL receptor in majority of French Canadians with familial hypercholesterolemia. N Engl J Med 1987;317:734-7.
14. Aalto-Setälä K, Koivisto U-M, Meittinen TA, Gylling H, Kesäniemi YA, Pyörälä K, et al. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland. J Intern Med 1992;231:227-34.
15. Top B, Koeleman BPC, Gevers-Leuven JA, Havekes LM, Frants RR. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. Atherosclerosis 1990;83:127-36.
16. Aalto-Setälä K. The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA. FEBS Lett 1998;234:411-6.
17. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma without the use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502.
18. Sveger T, Fex G, Borgfors N. Hyperlipidemia in school children with family histons of premature coronary heart disease. Acta Paediatr Scand 1987;76:311-5.
19. John SW, Weizner G, Rozen R, Scriver CR. A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 1991;19:408.
20. Chae JJ, Park YB, Kim SH, Hong SS, Song GJ, Han KH, et al. Two partial deletion mutations involving the same Alu sequences within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia. Hum Genet 1997;99:155-63.
21. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977;74:5463-7.
22. Deininger PL, Jolly DJ, Rubin CM, Friedmann T, Schmid CW. Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol 1981;151:17-33.
23. Bochmann H, Gehrisch S, Jaross W. Fast amplification of the low density lipoprotein receptor gene and detection of a large deletion by means of long polymerase chain reaction. Eur J Clin Chem Clin Biochem 1996;34:955-9.
24. Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. Hum Genet 1997;100:266-70.
25. Langlois S, Kastelein JJP, Hayden MR. Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Am J Hum Genet 1988;43:60-8.
26. Bertolini S, Garuti R, Lelli W, Rolled M, Tiozzo RM, Ghisellini M, et al. Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia. Arteriosclerosis 1995;15:81-8.
27. Esser V, Limbird LE, Brown MS, Goldstein JL, Russell DW. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J Biol Chem 1988;263:13282-90.
28. van der Westhuyzen DR, Stein ML, Henderson HE, Marais AD, Fourie AM, Coetzee CA. Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation. Biochem J 1991;277:677-82.
29. Hobbs HH, Esser V, Russell DW. Avail polymorphism in the human LDL receptor gene. Nucleic Acids Res 1987;15:379.
30. Hobbs HH, Lehrman MA, Yamamoto T, Russell DW. Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc Natl Acad Sci U S A 1985;82:7651-5.
31. Humphries SE, Kessling AM, Horsthemke B, Donald JA, Seed M, Jowett NI, et al. A common DNA polymorphism of the low density lipoprotein (LDL) receptor gene and its use in diagnosis. Lancet 1985;1:1003-5.
32. Geisel J, Weishaar B, Oette K, Mechter M, Doefler W. Double Mspl RFLP in the human LDL receptor gene. Nucleic Acids Res 1987;15:3943.
33. Kotze MJ, Langenhoven E, Dietzsch E. Retief AE. A RFLP associated with the low-density lipoprotein receptor gene (LDLR). Nucleic Acids Res 1987;15:376.
34. Chae JJ, Kim SH, Hong SS, Namkoong Y, Park YB, Lee CC. A new Mspl-RFLP in the human LDL receptor gene. Hum Hered 1996;46:339-41.
35. Sun X.-M, Patel DD, Bhatnagar D, Knight BL, Soutar AK. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol 1995;15:219-27.
36. Koivisto UM, Palvimo JJ, Janne OA, Kontula K. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci U S A 1994;91:10526-30.
37. Miserez AR, Schuster H, Chiodetti N, Keller U. Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet 1993;52:808-26.