TY - JOUR
T1 - Chinese (A)γ fetal hemoglobin
T2 - C to T substitution at position - 196 of the (A)γ gene promoter
AU - Gelinas, R.
AU - Bender, M.
AU - Lotshaw, C.
AU - Waber, P.
AU - Kazazian, H.
AU - Stamatoyannopoulos, G.
PY - 1986
Y1 - 1986
N2 - 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)γ-HPFH. Both allelic (A)γ-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One (A)γ gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now been found in unrelated individuals with the (A)γ-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.
AB - 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)γ-HPFH. Both allelic (A)γ-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One (A)γ gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now been found in unrelated individuals with the (A)γ-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.
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U2 - 10.1182/blood.v67.6.1777.bloodjournal6761777
DO - 10.1182/blood.v67.6.1777.bloodjournal6761777
M3 - Article
C2 - 2423160
AN - SCOPUS:0022501159
SN - 0006-4971
VL - 67
SP - 1777
EP - 1779
JO - Blood
JF - Blood
IS - 6
ER -