The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases.

Abstract:

:The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a large-scale restriction map of the beta-globin cluster in normal and HPFH DNA. The deletions in HPFH-1, which occurs in American blacks, and in HPFH-2, which occurs in Ghanaian blacks, are found to be approximately 105 kilobases (kb) in length, though the endpoints are staggered by approximately 5 kb. The fact that two previously reported gamma delta beta-thalassemia deletions to the 5' side of the beta-globin cluster are also about 100 kb suggests a common mechanism, possibly involving the loss of a complete chromatin loop.

journal_name

Blood

journal_title

Blood

authors

Collins FS,Cole JL,Lockwood WK,Iannuzzi MC

subject

Has Abstract

pub_date

1987-12-01 00:00:00

pages

1797-803

issue

6

eissn

0006-4971

issn

1528-0020

journal_volume

70

pub_type

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