Detection of common deletional alpha-thalassemia-2 determinants by PCR.

Abstract:

:We have developed a rapid approach to detect the two most common alpha-thalassemia-2 (alpha-thal-2) determinants by the polymerase chain reaction (PCR) technique, which takes a few hours to complete. Specific oligonucleotides selectively amplify appropriate segments of the chromosome with the deletion and the normal chromosome under identical experimental conditions, and the products are identified by electrophoresis on 1.5% agarose. Characterization of the two most prevalent types of the -alpha 3.7 determinant [-alpha 3.7(I) and -alpha 3.7(II)] can be made by Apa I digestion of the PCR product. Two types of alpha-thal-2 determinants, -alpha 3.7 and -alpha 4.2, were tested in numerous samples from various parts of the world. This approach is believed to provide a cost-effective way to screen large numbers of blood samples in a relatively short time and can be used to identify alpha-thal-2 heterozygotes and homozygotes and compound heterozygotes (-alpha 3.7/-alpha 4.2) in populations where such alpha-gene defects are shown to exist at high frequencies.

journal_name

Am J Hematol

authors

Baysal E,Huisman TH

doi

10.1002/ajh.2830460309

subject

Has Abstract

pub_date

1994-07-01 00:00:00

pages

208-13

issue

3

eissn

0361-8609

issn

1096-8652

journal_volume

46

pub_type

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