Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Gelinas R,Bender M,Lotshaw C,Waber P,Kazazian H Jr,Stamatoyannopoulos Gsubject
Has Abstractpub_date
1986-06-01 00:00:00pages
1777-9issue
6eissn
0006-4971issn
1528-0020journal_volume
67pub_type
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