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Rapid detection of the common mediterranean α‐globin deletions/rearrangements using PCR
Author(s) -
OronKarni Varda,
Filon Dvora,
Oppenheim Ariella,
Rund Deborah
Publication year - 1998
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199808)58:4<306::aid-ajh10>3.0.co;2-5
Subject(s) - multiplex polymerase chain reaction , biology , genetics , genotype , allele , polymerase chain reaction , thalassemia , multiplex , variants of pcr , gene , hemoglobinopathy , prenatal diagnosis , identification (biology) , beta thalassemia , microbiology and biotechnology , computational biology , hemolytic anemia , immunology , fetus , pregnancy , botany
The most frequent molecular lesions causing α‐thalassemia are deletions of one or more α‐globin genes. Detection of these deletions generally requires genomic Southern analysis, which is cumbersome and time consuming. We have designed new sets of primers for PCR identification of the common Mediterranean α‐globin gene rearrangements, including the ‐α 3.7 deletion and the ααα anti3.7 triplication, the ‐α 4.2 deletion, and the ‐‐ Med allele. We have established reaction conditions that provide easily interpretable, unambiguous diagnoses. Some of the PCR reactions are multiplex, simultaneously identifying several genotypes, thus reducing the time and cost of screening and prenatal testing. The use of these methods should facilitate carrier screening and identification of couples at risk for α‐thalassemia. Am. J. Hematol. 58:306–310, 1998. © 1998 Wiley‐Liss, Inc.