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Characterization of two deletions that remove the entire human ζ‐α globin gene complex (— THAI and — FIL )
Author(s) -
FischelGhodsian N.,
Vickers M. A.,
Seip M.,
Winichagoon P.,
Higgs D. R.
Publication year - 1988
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 - 10.1111/j.1365-2141.1988.tb02469.x
Subject(s) - mutant , genetics , gene , southeast asia , biology , breakpoint , hemoglobinopathy , mutation , microbiology and biotechnology , alpha (finance) , hemolytic anemia , medicine , chromosomal translocation , ancient history , construct validity , nursing , patient satisfaction , immunology , history
We have fully characterized two α thalassaemia mutants that occur in Southeast Asia, — THAI and — FIL . Each mutant is due to a deletion that removes the entire ζ‐α‐globin gene complex. Localization of the 5’breakpoints described here, allows the identification of unique fragments that are specific for each of the two mutations. This information can be used to assess the frequency of these mutants in Southeast Asia and will be of value in prenatal testing for α thalassaemia in this area.