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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
TP53 codon 72 single nucleotide polymorphism in chronic lymphocytic leukemia.
N I Bilous1, I V Abramenko1, A A Chumak1
1SE "National Research Center for Radiation Medicine, National Academy of Medical Sciences of Ukraine", 53 Melnikov Str., Kyiv 04050, Ukraine.
The TP53 codon 72 polymorphism (rs1042522) is linked to TP53 mutations in chronic lymphocytic leukemia (CLL). The 72Pro/Pro genotype indicates a higher risk of TP53 mutations in treated CLL patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- TP53 gene defects are crucial in chronic lymphocytic leukemia (CLL).
- TP53 inactivation correlates with aggressive CLL forms.
- The TP53 codon 72 polymorphism (rs1042522) influences TP53 protein's apoptotic function.
Purpose of the Study:
- To investigate the association between the TP53 codon 72 polymorphism and TP53 mutations in CLL patients.
- To determine if the TP53 codon 72 polymorphism serves as a risk factor for TP53 mutations in CLL.
Main Methods:
- Analysis of 261 CLL samples.
- Polymerase chain reaction and direct sequencing were employed.
- TP53 mutations and single nucleotide polymorphism (SNP) were assessed.
Main Results:
- The 72Pro/Pro genotype was significantly associated with an increased incidence of TP53 mutations.
- This association was observed in previously treated CLL patients (OR = 2.503; p = 0.001).
Conclusions:
- The TP53 codon 72 polymorphism may predict the incidence of TP53 mutations in CLL.
- This polymorphism can be utilized as a risk factor in CLL management.
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