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A novel four base‐pair deletion within the Aγ‐GLOBin gene promoter associated with slight increase of Aγ expression in adult
Author(s) -
Huang XiaoDong,
Yang Xuexian O.,
Huang RuiBin,
Zhang HongYuan,
Zhao HuaLu,
Zhao YanJun,
Huang ChengLe,
Hou ChunJiang,
Zhang JunWu
Publication year - 2000
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(200001)63:1<16::aid-ajh4>3.0.co;2-w
Subject(s) - microbiology and biotechnology , gene , biology , restriction enzyme , base pair , globin , promoter , gene cluster , polymerase chain reaction , dna , gene expression , genetics
We studied a Chinese family and revealed 5.4% and 3.2% fetal hemoglobin (HbF) with advantageously Aγ type in the mother and the daughter, respectively, using alkali denaturation assay and urea–Triton–acrylamide gel electrophoresis and high‐performance liquid chromatography. The father's HbF was less than 0.5%. Large deletion was not observed within the β‐globin gene cluster by restriction endonulease mapping. Characterization by the polymerase chain reaction (PCR) and DNA sequencing demonstrated the mother is a homozygote with a novel four base‐pair “AAGC” (‐226 to ‐223) deletion within the Aγ‐globin gene promoter and the daughter is a heterozygote with this deletion. The deletion was not detected in the father. No any mutations were identified in the Gγ promoter of all the subjects studied. We propose that the small deletion is associated with the slight increase of Aγ gene expression in adult. Am. J. Hematol. 63:16–19, 2000. © 2000 Wiley‐Liss, Inc.