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PMID: 2472351 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster.

Human genetics ·Vol. 82 ·No. 4 ·1989-07-00 ·Pages 335-7

Martinez G, Novelletto A, Di Rienzo A, Felicetti L, Colombo B

Abstract

The pattern of inheritance of several polymorphic restriction sites associated with the beta-gene cluster, and spanning a region of 52kb, demonstrates that a determinant for hereditary persistence of fetal hemoglobin (HPFH) segregates independently from the non-alpha globin gene cluster, as we postulated several years ago on purely genetical grounds. This finding provides additional evidence for the existence of diffusible factors affecting gamma-chain expression. Moreover, we have identified a "private" HincII polymorphism, in the vicinity of the epsilon gene in the family studied.

MeSH Terms
DNA Restriction Enzymes Female Fetal Hemoglobin/genetics Genetic Linkage Globins/genetics Hemoglobinopathies/genetics Humans Male Multigene Family Pedigree Polymorphism, Restriction Fragment Length
Chemicals
Globins Fetal Hemoglobin DNA Restriction Enzymes
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Martinez G
Instituto de Hematologia e Inmunologia, La Habana, Cuba.
Novelletto A
Di Rienzo A
Felicetti L
Colombo B
References (8)
8 references, click to expand
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  6. Developmental regulation of human globin genes.
    Annu Rev Biochem. 1985;54:1071-108 PMID: 2411209
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    Clin Chim Acta. 1979 Nov 15;99(1):7-11 PMID: 498543
  8. Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster.
    Hum Genet. 1984;66(2-3):151-6 PMID: 6201431
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00273993
Published
1989-07-00
Pages
335-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00273993 View journal details
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