Document Detail

Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.
MedLine Citation:
PMID:  11960579     Owner:  NLM     Status:  MEDLINE    
Alpha-thalassemia is a common hereditary anemia due to decreased or absent synthesis of alpha-globin chains. The most common causes of alpha-thalassemia are deletions that remove one or both functional alpha-globin genes, with a small proportion of cases involving nondeletional mutations of the alpha2- or alpha1-globin genes. Herein, we describe a single-tube multiplex amplification refractory mutation system (ARMS) assay for rapid detection of six of the most common and severe nondeletional alpha-thalassemia mutations. These alleles are found predominantly among southeast Asian populations, and are associated with the most severe forms of hemoglobin (Hb) H disease or Hb H hydrops fetalis.
B Eng; M Patterson; L Walker; D H Chui; J S Waye
Related Documents :
1672269 - Common variable immunodeficiency is associated with polymorphic markers in the human ma...
21276969 - Seven roads traveled well and seven more to be traveled more.
10533829 - Molecular analysis of secretor type alpha(1,2)-fucosyltransferase gene mutations in the...
24129779 - Il36rn mutations in generalized pustular psoriasis: just the tip of the iceberg?
7608269 - Molecular study of the 5 alpha-reductase type 2 gene in three european families with 5 ...
1944469 - Activating mutations of the stimulatory g protein in the mccune-albright syndrome.
21984189 - Apoe gene polymorphism and vascular dementia in chinese population: a meta-analysis.
15998779 - A novel homozygous ala529val lmna mutation in turkish patients with mandibuloacral dysp...
2989709 - Dna restriction fragments associated with alpha 1-antitrypsin indicate a single origin ...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing     Volume:  5     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2001  
Date Detail:
Created Date:  2002-04-18     Completed Date:  2002-05-15     Revised Date:  2006-03-28    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  327-9     Citation Subset:  IM    
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada L8N 3Z5.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Globins / genetics*
Infant, Newborn / blood
Point Mutation*
Polymerase Chain Reaction / methods*
Sensitivity and Specificity
alpha-Thalassemia / diagnosis,  genetics*
Reg. No./Substance:

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

Previous Document:  Mutation analysis in Rett syndrome.
Next Document:  Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogenei...