Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 23, 1999 - Issue 3
31
Views
16
CrossRef citations to date
0
Altmetric
Original Article

A Mismatched-Primer Polymerase Chain Reaction-Restriction Fragment Length Polymorphism Strategy for Rapid Screening of the Polyadenylation Signal Mutation αT-saudi (AATAAA→AATAAG) in the α2-Globin Gene

, , , , , & show all
Pages 213-220 | Received 08 Jan 1999, Accepted 09 Apr 1999, Published online: 07 Jul 2009
 

Abstract

The most common nondeletional α-thalassemia allele, namely αT-Saudi (AATAAA→AATAAG), in the Arabian peninsula and neighboring countries is responsible for a number of cases of Hb H disease. It is expected to alter significantly the clinical manifestations of β-thalassemia and sickle cell disease, also quite prevalent in these regions. Recognition of the αT-Saudi allele has so far relied on technically-demanding procedures. Here we report a simple, rapid, and robust polymerase chain reaction-based detection procedure for this allele. This involves priming of the polymerase chain reaction with a deliberately introduced mismatch in one of the primers so that the mutant allele, after amplification, would introduce a StuI restriction enzyme site, the presence of which can be recognized by digesting the polymerase chain reaction product with this enzyme.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.