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.
|Original language||English (US)|
|Number of pages||3|
|State||Published - 1986|
ASJC Scopus subject areas
- Cell Biology