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Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA

✍ Scribed by Kees L. Harteveld; Angelien J.G.A.M. Heister; Piero C. Giordano; Monique Losekoot; Luigi F. Bernini

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
807 KB
Volume
7
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Jiirgen H m

We report the application of DGGE and SSCA for the identification of point mutations causing a-thalassemia. T h e a-globin genes were amplified in three overlapping fragments of 250 bp (I), 540 bp (11), and 600 bp (111), respectively. Fragments I1 and 111 were analysed by DGGE, while fragments I and I1 were analysed by SSCA. A panel of seven previously identified mutations was employed to test the combined DGGE1SSCA strategy: 515 and 617 mutations were detected by SSCA and DGGE, respectively. The same approach has also led to the identification of eight disease-causing mutations in a sample of 18 presumed non-deletional a-thalassemia carriers. During this pilot study, two novel mutations as well as three new polymorphisms were found. T h e combined application of SSCA and DGGE allows the rapid identification of mutations responsable for a-thalassemia and abnormal globin chain variants. Moreover, it will prove extremely useful for pre-and posmatal diagnosis and in screening programs for non*deletional a-thalassemias.

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