DOI: 10.1182/blood.v79.5.1342.1342. Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]

Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]

10.1182/blood.v79.5.1342.1342

Crossref journal-article

American Society of Hematology

Blood (234)

Abstract

Abstract Two novel beta-thalassemia mutations are described. The first mutation, found in an Italian family, is a G----A substitution in nucleotide (nt) +22 relative to the beta-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would result in premature termination 36 bp 3′ downstream. The second mutation, found in an Irish family, is a T----C substitution in nt +1570, or 12 bp 5′ upstream of the AATAAA polyadenylation signal in the 3′ noncoding region. It is postulated that this mutation leads to destabilization of the encoded beta-globin mRNA.

Bibliography

Cai, S., Eng, B., Francombe, W., Olivieri, N., Kendall, A., Waye, J., & Chui, D. (1992). Two novel beta-thalassemia mutations in the 5â and 3â noncoding regions of the beta-globin gene [see comments]. Blood, 79(5), 1342â1346.

Authors 7

SP Cai (first)
B Eng (additional)
WH Francombe (additional)
NF Olivieri (additional)
AG Kendall (additional)
JS Waye (additional)
DH Chui (additional)

References 0 Referenced 51

None

Dates

Type	When
Created	5 years, 10 months ago (Oct. 13, 2019, 10:59 p.m.)
Deposited	5 years, 9 months ago (Nov. 20, 2019, 5:43 a.m.)
Indexed	2 months, 3 weeks ago (June 3, 2025, 3:48 p.m.)
Issued	33 years, 5 months ago (March 1, 1992)
Published	33 years, 5 months ago (March 1, 1992)
Published Print	33 years, 5 months ago (March 1, 1992)

Funders 0

None

BibTeX

@article{Cai_1992, title={Two novel beta-thalassemia mutations in the 5’ and 3’ noncoding regions of the beta-globin gene [see comments]}, volume={79}, ISSN={1528-0020}, url={http://dx.doi.org/10.1182/blood.v79.5.1342.1342}, DOI={10.1182/blood.v79.5.1342.1342}, number={5}, journal={Blood}, publisher={American Society of Hematology}, author={Cai, SP and Eng, B and Francombe, WH and Olivieri, NF and Kendall, AG and Waye, JS and Chui, DH}, year={1992}, month=mar, pages={1342–1346} }

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