Literature DB >> 2472351

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

G Martinez1, A Novelletto, A Di Rienzo, L Felicetti, B Colombo.   

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.

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Year:  1989        PMID： 2472351     DOI： 10.1007/bf00273993

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

Review 1.  Developmental regulation of human globin genes.

Authors:  S Karlsson; A W Nienhuis
Journal:  Annu Rev Biochem       Date:  1985       Impact factor: 23.643

2.  Frequency and types of deletional alpha+-thalassemia in northern Sardinia.

Authors:  A Di Rienzo; L Felicetti; A Novelletto; G Forteleoni; B Colombo
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  A protein factor binding to an octamer motif in the gamma-globin promoter disappears upon induction of differentiation and hemoglobin synthesis in K562 cells.

Authors:  R Mantovani; N Malgaretti; B Giglioni; P Comi; N Cappellini; S Nicolis; S Ottolenghi
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

4.  A new type of hereditary persistence of foetal haemoglobin: is a diffusible factor regulating gamma-chain synthesis?

Authors:  G Martinez; B Colombo
Journal:  Nature       Date:  1974-12-20       Impact factor: 49.962

5.  Nonuniform recombination within the human beta-globin gene cluster.

Authors:  A Chakravarti; K H Buetow; S E Antonarakis; P G Waber; C D Boehm; H H Kazazian
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

6.  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.

Authors:  A Giampaolo; F Mavilio; N M Sposi; A Carè; A Massa; L Cianetti; M Petrini; R Russo; M D Cappellini; M Marinucci
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Electrophoretic separation of A gamma and G gamma human globin chains in Nonidet P-40.

Authors:  A Guerrasio; G Saglio; U Mazza; P Pich; C Camaschella; G Ricco; E Gianazza; P G Righetti
Journal:  Clin Chim Acta       Date:  1979-11-15       Impact factor: 3.786

8.  A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.

Authors:  A M Gianni; M Bregni; M D Cappellini; G Fiorelli; R Taramelli; B Giglioni; P Comi; S Ottolenghi
Journal:  EMBO J       Date:  1983       Impact factor: 11.598
  8 in total
  6 in total

1.  A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.

Authors:  S Fucharoen; K Shimizu; Y Fukumaki
Journal:  Nucleic Acids Res       Date:  1990-09-11       Impact factor: 16.971

Review 2.  Control of fetal hemoglobin: new insights emerging from genomics and clinical implications.

Authors:  Swee Lay Thein; Stephan Menzel; Mark Lathrop; Chad Garner
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

3.  Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.

Authors:  S L Thein; M Sampietro; K Rohde; J Rochette; D J Weatherall; G M Lathrop; F Demenais
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

4.  Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

Authors:  C Garner; J Mitchell; T Hatzis; J Reittie; M Farrall; S L Thein
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 5.  Concise Review: Epigenetic Regulation of Hematopoiesis: Biological Insights and Therapeutic Applications.

Authors:  Chiara Antoniani; Oriana Romano; Annarita Miccio
Journal:  Stem Cells Transl Med       Date:  2017-10-28       Impact factor: 6.940

6.  What influences Hb fetal production in adulthood?

Authors:  Gisele Cristine de Souza Carrocini; Paula Juliana Antoniazzo Zamaro; Claudia Regina Bonini-Domingos
Journal:  Rev Bras Hematol Hemoter       Date:  2011
  6 in total

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