Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter.

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

Blood

journal_title

Blood

authors

Gelinas R,Bender M,Lotshaw C,Waber P,Kazazian H Jr,Stamatoyannopoulos G

subject

Has Abstract

pub_date

1986-06-01 00:00:00

pages

1777-9

issue

6

eissn

0006-4971

issn

1528-0020

journal_volume

67

pub_type

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