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Determination of the breakpoint of the common α‐thalassaemia deletion in Filipinos in Hawaii
Author(s) -
Hunt John A.,
Lee Lara,
Donlon Timothy A.,
Hsia Y. Edward
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01175.x
Subject(s) - breakpoint , genetics , crossover , biology , globin , alu element , multiplex , point mutation , sequence (biology) , microbiology and biotechnology , gene , mutation , genome , human genome , computer science , chromosomal translocation , artificial intelligence
The region of the crossover causing the Filipino type of α thalassaemia has been determined by examining similarity between the regions which had been indicated as involved in the crossover points by restriction mapping, using the published α‐globin region DNA sequence. The crossover point was found in 21 base pairs between two Alu sequences using PCR primers flanking these Alu sequences. A simple PCR multiplex assay has been devised to detect heterozygotes and homozygotes.