Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter.
The molecular basis for the hereditary persistence of fetal hemoglobin (HPFH) phenotype was studied in a Chinese individual who was heterozygous for a nondeletion form of A gamma-HPFH. Both allelic A gamma-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One A gamma gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now ben found in unrelated individuals with the A gamma-HPFH phenotype from Italy, Sardinia, and China, suggesting that it may have arisen independently. The implications of this mutation for models of fetal globin gene switching are discussed.
R
R
Gelinas
M
M
Bender
C
C
Lotshaw
P
P
Waber
H
H
Kazazian
G
G
Stamatoyannopoulos
D000328:Adult; D001483:Base Sequence; D003562:Cytidine; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013936:Thymidine
D003562:Cytidine; D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases; D013936:Thymidine