Is the common 844ins68 polymorphism in the cystathionine β-synthase gene associated with atherosclerosis?

Journal of Inherited Metabolic Disease

Volumn 22, Issue 5, 1999, Pages 674-675

  Orendac M ^a   Muskova B ^a   Richterova E ^a   Zvarova J ^b   Stefek M ^b   Zaykova, E ^c   Kraus, J P ^d   Stribrny J ^c   Hyanek J ^c   Kozich V ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b INSTITUTE OF MATHEMATICS   (Czech Republic)

^c NA HOMOLCE HOSPITAL   (Czech Republic)

^d Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; MESSENGER RNA;

ADULT; AGED; ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID METABOLISM; ARTICLE; ATHEROSCLEROSIS; CONTROLLED STUDY; CZECH REPUBLIC; DNA POLYMORPHISM; ENZYME DEFICIENCY; EXON; FEMALE; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PERIPHERAL OCCLUSIVE ARTERY DISEASE; POLYMERASE CHAIN REACTION; RISK FACTOR; STOP CODON;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ARTERIOSCLEROSIS; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; POLYMORPHISM, GENETIC;

EID: 0344654735     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005554702861     Document Type: Article

References (5)

1. Clarke R, Daly L, Robinson K, et al (1991) Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med 324: 1149-1155.
2. Kluijtmans LAJ, Boers GHJ, Trijbels FJM, van Lith-Zanders HMA, van den Heuvel LPWJ, Blom HJ (1997) A common 844ins68 insertion variant in the cystathionine β-synthase gene. Biochem Mol Med 62: 23-25.
3. Kožich V, Kraus E, de Franchis R, et al (1995) Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level. Hum Mol Genet 4: 623-629.
4. Sperandeo MP, de Franchis R, Andria G, Sebastio G (1996) A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA. Am J Hum Genet 59: 1391-1393.
5. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ (1996) High prevalence of a mutation in the cystathionine β-synthase gene. Am J Hum Genet 59: 1262-1267.