Document Detail


Detection of alpha-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis.
MedLine Citation:
PMID:  7554366     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A simple non-radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of alpha-thalassemia 1 (--). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the alpha-thalassemia-1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants. In Hb Bart's hydrops fetalis (--/--), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (alpha alpha/alpha alpha) and alpha-thalassemia-2 trait (-alpha/alpha alpha). Both 570 and 194 bp fragments were detected in alpha-thalassemia-1 trait (--/alpha alpha) and Hb H patients (--/-alpha). This procedure is useful for the rapid screening of alpha-thalassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of alpha-thalassemia-1.
Authors:
P Winichagoon; S Fucharoen; S Kanokpongsakdi; Y Fukumaki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  47     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1995 Jun 
Date Detail:
Created Date:  1995-11-20     Completed Date:  1995-11-20     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  318-20     Citation Subset:  IM    
Affiliation:
Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
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MeSH Terms
Descriptor/Qualifier:
Asia, Southeastern / epidemiology
Base Sequence
Case-Control Studies
Female
Genetic Testing
Globins / genetics
Heterozygote
Humans
Hydrops Fetalis / diagnosis*,  genetics
Molecular Sequence Data
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis / methods*
alpha-Thalassemia / genetics*
Chemical
Reg. No./Substance:
9004-22-2/Globins

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


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