What question did this study set out to answer?

Investigate the molecular genetic basis of beta-thalassemia in a Thai patient compound heterozygous for beta-thalassemia and hemoglobin E disease.

May 1, 1989Journal of Biological ChemistryOpen Access

A novel ochre mutation in the β-thalassemia gene of a Thai

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Investigate the molecular genetic basis of beta-thalassemia in a Thai patient compound heterozygous for beta-thalassemia and hemoglobin E disease.
Amplified a 3.0-kilobase genomic fragment containing the complete beta-globin gene via Taq polymerase chain reaction and cloned it directly into plasmid vectors.
Verified the mutation using Sanger sequencing, conventional cloning, direct PCR product sequencing, and allele-specific oligonucleotide hybridization in patient and control DNA.
Identified a novel single base C-to-A transversion at codon 35 that produces a premature TAA (ochre) termination codon, driving a beta-zero-thalassemia phenotype.
Detected no sequence misincorporations across five 3.0-kilobase clones derived from normal control DNA, demonstrating the fidelity of direct PCR-based gene cloning.

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Implication

Genetic analysis reveals a novel codon 35 ochre mutation in a compound heterozygous patient, highlighting a rapid polymerase chain reaction cloning approach for thalassemia diagnostics.

Cite This Study

Fucharoen et al. (1989) studied this question.

synapsesocial.com/papers/6a9324ac52eb5ed80458b656 https://doi.org/10.1016/s0021-9258(18)83107-6

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Implication

Genetic analysis reveals a novel codon 35 ochre mutation in a compound heterozygous patient, highlighting a rapid polymerase chain reaction cloning approach for thalassemia diagnostics.

A novel ochre mutation in the β-thalassemia gene of a Thai

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Discussion

Implication

Cite This Study

A novel ochre mutation in the β-thalassemia gene of a Thai

Key Points

Discussion

Implication

Cite This Study

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