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PMID: 3387213 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

Nucleic acids research ·Vol. 16 ·No. 11 ·1988-06-10 ·Pages 4927-35

Beldjord C, Lapoumeroulie C, Pagnier J, Benabadji M, Krishnamoorthy R, Labie D, Bank A

Abstract

An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2) six bases 5' to the consensus AG dinucleotide sequence (CCGCCCACAG instead of CCTCCCACAG). In addition, digestion of the cloned fragment by the enzyme Mnl I demonstrates the disappearance of a restriction site as expected. This is the first example of a defect in the consensus sequence at the 3' end of an IVS leading to a thalassemia phenotype presumably due to decreased splicing.

MeSH Terms

Adult Base Sequence Female Globins/genetics Humans Molecular Sequence Data Pedigree RNA Splicing Thalassemia/genetics

Chemicals

Globins

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Beldjord C

Columbia University, College of Physicians and Surgeons, Department of Medicine, New York, NY.

Lapoumeroulie C

Pagnier J

Benabadji M

Krishnamoorthy R

Labie D

Bank A

References (11)

11 references, click to expand

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Four new haplotypes observed in Algerian beta-thalassemia patients.
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Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.
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Article Info

Journal

Nucleic acids research

Abbr.

Nucleic Acids Res

ISSN

0305-1048

DOI

10.1093/nar/16.11.4927

Published

1988-06-10

Pages

4927-35

Language

English

Region

England

NLM ID

0411011

PMCID

PMC336707

Subset

Grants

NIDDK NIH HHS · DK-25274 · United States

NHLBI NIH HHS · HL-37069 · United States

External Links

PubMed source DOI: 10.1093/nar/16.11.4927 PMC Full Text View journal details

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A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

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