Molecular genetic diagnosis of a family with hypercholesterolemia by a mismatched PCR-RFLP method for genotyping single base substitution of the LDL receptor gene

Japanese Heart Journal

Volumn 39, Issue 5, 1998, Pages 681-686

  Yamaki, Emi ^a   Hirayama, Tsunenori ^a   Wu, Lily L ^b   Hopkins, Paul N ^b   Williams, Roger R ^b   Emi, Mitsuru ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Familial hypercholesterolemia; Genotyping; LDL receptor; Mismatched PCR; Restriction fragment length polymorphism

Indexed keywords

LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; RESTRICTION ENDONUCLEASE;

ADULT; ANALYZER; ARTICLE; CHOLESTEROL BLOOD LEVEL; DEVICE; DIAGNOSTIC PROCEDURE; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN CELL; LIPOPROTEIN BLOOD LEVEL; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULTRACENTRIFUGE;

EID: 0031795468     PISSN: 00214868     EISSN: None     Source Type: Journal    
DOI: 10.1536/ihj.39.681     Document Type: Article

References (9)

1. Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly DS, Valle D, editors. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989: 1215-50.
2. Sudhof TC, Goldstein JL, Brown MS, Russel DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985; 228: 815-22.
3. Hobbs HH, Russel DW, Brown MS, Goldstein JL. The LDL receptor locus and familial hypercholesterolemia: mutation analysis of a membrane protein. Ann Rev Genet 1990; 24: 133-70.
4. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutation 1992; 1: 445-66.
5. Yamakawa K., Kobayashi T, Obara T, Hamaguchi H. Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis. Hum Genet 1993; 92: 76-8
6. Williams RR, Hasstedt SJ, Wilson DE, et al. Evidence that men with familial hypercholesterolemia can avoid early coronary death. J Am Med Assoc 1986; 255: 219-24.
7. Kamino K., Miki T, Ogihara T. Identification of a single base polymorphism in intron 2 of the c-fos gene and its detection by mismatched PCR-RFLP. Jpn J Hum Genet 1994, 39: 439-40.
8. Nakamura Y. Application of DNA markers to clinical genetics. Jpn J Hum Genet 1996; 41: 1-14.
9. Yanase T Human genetics: past, present, and future. Jpn J Hum Genet 1997; 42: 265-316.