Document Detail


Prevalence of the mutation C677 --> T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil.
MedLine Citation:
PMID:  9714434     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Vascular disease is a serious public health problem in the industrialized world, and is a frequent cause of death among the adult population of Brazil. Mild hyperhomocysteinemia has been identified as a risk factor for arterial disease, venous thrombosis, and neural tube defects. Individuals homozygous for the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR-T) are found in 5-15% of the general population and have significantly elevated plasma homocysteine levels which represent one of the genetic risk factors for vascular diseases. We have analyzed the prevalence of individuals homozygous for the MTHFR-T in 327 subjects representing the three distinct ethnic groups in Brazil. The prevalence of homozygotes for the mutated allele MTHFR-T was high among persons of Caucasian descent (10%) and considerably lower among Black (1.45%) and Indians persons populations (1.2%). These data suggest that screening for the MTHFR-T allele should help in identifying individuals with a high risk of vascular disease among populations with a heterogeneous background.
Authors:
V R Arruda; L H Siqueira; M S Gonçalves; P M von Zuben; M C Soares; R Menezes; J M Annichino-Bizzacchi; F F Costa
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  78     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Jul 
Date Detail:
Created Date:  1998-10-20     Completed Date:  1998-10-20     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  332-5     Citation Subset:  IM    
Affiliation:
Hematology-Hemotherapy Center, Department of Clinical Medicine, State University of Campinas, Campinas-SP, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
African Continental Ancestry Group / genetics*
Aged
Alleles
Brazil
Child
Cytosine
Deoxyribonucleases, Type II Site-Specific
European Continental Ancestry Group / genetics*
Female
Genetic Testing
Homozygote
Humans
Indians, South American / genetics*
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Middle Aged
Oxidoreductases Acting on CH-NH Group Donors / genetics*
Point Mutation*
Polymerase Chain Reaction
Thymine
Chemical
Reg. No./Substance:
65-71-4/Thymine; 71-30-7/Cytosine; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2); EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific; EC 3.1.21.4/GANTC-specific type II deoxyribonucleases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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