Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene

Journal of Human Genetics

Volumn 43, Issue 4, 1998, Pages 250-254

  Hirayama, Tsunenori ^a   Yamaki, Emi ^a   Hata, Akira ^b   Tsuji, Masahiro ^c   Hashimoto, Kiyoshi ^a   Yamamoto, Masao ^a   Emi, Mitsuru ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c Hokkaido Hosp for Social Hlth Ins   (Japan)

Author keywords

Familial hypercholesterolemia; Genetic diagnosis; Hyperlipoproteinemia; LDL receptor; Lipoproteins

Indexed keywords

CHOLESTEROL; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEOTIDE; TRIACYLGLYCEROL;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; JAPAN; NONSENSE MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CHILD; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; JAPAN; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; RECEPTORS, LDL;

EID: 0031647971     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050083     Document Type: Article

References (13)

1. Davis CG, Goldstein JL, Sudhof TC, Andrson RGW, Russell DW, Brown MS (1987) Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature 326: 760-765
2. Goldstein JL, Brown MS (1989) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly DS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1215-1250
3. Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutation 1: 445-466
4. Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein Annu Rev Genet 24: 133-170
5. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 85: 1014-1023
6. Leren TP, Solberg K, Rodningen OK, Ose L, Tonstad S, Berg K (1993) Evaluation of running conditions for SSCP analysis: Application of SSCP for detection of point mutations in the LDL receptor gene. PCR Methods Appl 3: 159-162
7. Mabuchi H, Haba T, Ueda K, Ueda R, Tatami R, Ito S, Kametani T, Koizumi J, Miyamoto S, Ohta M, Takeda R, Takegoshi T, Takeshita H (1977) Serum lipids and coronary heart disease in heterozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis 28: 417-423
8. Maruyama T, Miyake Y, Tajima S, Harada-Shiba M, Yamamura T, Tsushima M, Kishino B, Horiguchi Y, Funahashi T, Matsuzawa Y, Yamamoto A (1995) Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. Arterioscler Thromb Vasc Biol 15: 1713-1718
9. Nakamura Y (1996) Application of DNA markers to clinical genetics. Jpn J Hum Genet 41: 1-14
10. Russell DW, Esser V, Hobbs HH (1989) Molecular basis of familial hypercholesterolemia. Arteriosclerosis Suppl 9: 1-13
11. Sudhof TC, Goldstern JL, Brown MS, Russell DW (1985) The LDL receptor gene: A mosaic of exons shared with different proteins. Science 228: 815-822
12. Williams RR, Hasstedt SJ, Wilson DE, Ash KO, Yanowitz FF, Reiber GE, Kuida H (1986) Evidence that men with familial hypercholesterolemia can avoid early coronary death. JAMA 255: 219-224
13. Yanase T (1997) Human genetics: Past, present, and future. Jpn J Hum Genet 2: 265-316