Structural analysis of a beta-thalassemia gene found in Taiwan.

Kimura, Asako; Matsunaga, Eiji; Takihara, Yoshihiro; Nakamura, Takanori; Takagi, Yasuyuki; Lin, Shen; Lee, H

doi:10.1016/s0021-9258(18)32776-5

Cited by 50 publications

(1 citation statement)

References 22 publications

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“…While the HBB −/- lines do successfully recapitulate the expected phenotype of β 0 -thalassemia erythroid cells, the deletion mutation is not one of over 300 different mutations that cause reduced or absent β-globin production in β-thalassemia patients 1 . Therefore, we next selected two prevalent β 0 -thalassemia mutations to introduce into BEL-A, to more accurately replicate patient genotypes and corroborate data from HBB −/- lines; CD41/42 -TTCT deletion which results in a frameshift and introduction of a premature stop codon 22,23 and IVS-1-1 G→ T substitution which prevents correct splicing of HBB mRNA 23 .…”

Section: Resultsmentioning

confidence: 99%

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

Daniels

Ferrer-Vicens

Hawksworth

et al. 2022

Preprint

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β-thalassemia is a prevalent genetic disorder causing severe anemia due to defective erythropoiesis, with few treatment options. Studying the underlying molecular defects is impeded by paucity of suitable patient material. In this study we created human disease cellular model systems for β-thalassemia, which accurately recapitulate the phenotype of patient erythroid cells. We also developed a high throughput compatible fluorometric-based assay for evaluating severity of disease phenotype and utilised the assay to demonstrate positive response of lines to verified reagents, providing validation for such applications. TMT-based comparative proteomics confirmed the same profile of proteins previously reported, whilst providing new insights into the altered molecular mechanisms in β-thalassemia erythroid cells, with upregulation of a wide range of biological pathways and processes observed. Overall, the lines provide a sustainable supply of disease cells as novel research tools, for identifying new therapeutic targets, and as screening platforms for novel drugs and therapeutic reagents.

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Section: Resultsmentioning

confidence: 99%

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

Daniels

Ferrer-Vicens

Hawksworth

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

References

2001

The Thalassaemia Syndromes

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Application of DNA polymorphisms for prenatal diagnosis of β thalassemia in chinese

Chan

Ghosh

et al. 1987

American J Hematol

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Forty-seven Chinese suffering from beta thalassemia major and their parents were studied to establish linkage of the beta thal and beta A genes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3' to the beta globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude beta thalassemia major. Using four restriction sites (Hinc II psi beta, Ava II beta, Hind III beta, and BamH I beta), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive beta thalassemia prenatal diagnosis is also reported.

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Structural analysis of a beta-thalassemia gene found in Taiwan.

Cited by 50 publications

References 22 publications

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

References

Application of DNA polymorphisms for prenatal diagnosis of β thalassemia in chinese

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