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Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.

Abstract：

:Restriction endonuclease analyses of DNA from one Black G gamma A gamma-HPFH homozygote and four Black and one Indian G gamma A gamma-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the delta and beta genes. Two of the types are comparable to those characterized previously, but the third, which is present in the Indian heterozygote, shows a distinct difference in the size of the deletion. The 5' end point of the deletion in this type III G gamma A gamma-HPFH extends 0.5-1.0 kb beyond the 5' end point of one of the Black types of HPFH (type I). Each of the three types is associated with a distinct ratio between the G gamma and the A gamma chains, an observation supported by family data. The highest ratio is found in the heterozygote with the Indian type III G gamma A gamma-HPFH, with 69.3% G gamma chains, while the averages for the other types were 50.7% G gamma (type I) and 32.3% G gamma (type II).

journal_name

Biochem Genet

journal_title

Biochemical genetics

authors

Kutlar A,Gardiner MB,Headlee MG,Reese AL,Cleek MP,Nagle S,Sukumaran PK,Huisman TH

doi

10.1007/BF00499284

subject

Has Abstract

pub_date

1984-02-01 00:00:00

pages

21-35

issue

1-2

eissn

0006-2928

issn

1573-4927

journal_volume

22

pub_type

杂志文章

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