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Two different mutations in codon 68 are observed in Hb G‐Philadelphia heterozygotes
Author(s) -
Molchanova T. P.,
Pobedimskaya D. D.,
Ye Z.,
Huisman T. H. J.
Publication year - 1994
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/ajh.2830450414
Subject(s) - genetics , gene , alpha (finance) , mutation , biology , microbiology and biotechnology , globin , chromosome , transition (genetics) , medicine , construct validity , nursing , patient satisfaction
Through sequencing of amplified DNA containing the appropriate α‐giobin genes we have identified the base substitution leading to the formation of Hb G‐Philadelphia [α6B(El7)Asn Lys]. Three subjects (∼25% Hb G) had an AAC AAA change at codon 68 of the α2‐globin gene; the chromosome with this mutation carried two α genes (αα). Six subjects (∼33% Hb G) had an AAC AAG change at the same codon of the α2α1 hybrid gene on a chromosome with the 3.7 kb deletion (‐α 3.7 ). These results indicate two inde pendent mutations which likely occurred in different populations; Increase In the level of Hb G is primarily dependent upon the loss of one or more α‐globin genes. © 1994 Wiley‐Liss, Inc.