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Updated: Jul 10, 2026
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular
M Yavarian1, M Karimi, M Shahriary
1Hematology Research Center, School of Medicine, Shiraz University of Medical Science, Shiraz, Iran. yavarian@sums.ac.ir
Insights
Pyruvate kinase (PK) deficiency was screened in 146 patients, revealing significantly lower enzyme activity compared to healthy adults. Fourteen distinct mutations in the R-PK gene were identified in 74 individuals, with G1168A and G1529A being the most prevalent.
Area of Science:
- Genetics
- Hematology
- Biochemistry
Background:
- Pyruvate kinase (PK) deficiency is a genetic disorder affecting red blood cells.
- Hematological index analysis is a key method for pre-selecting patients for screening.
Purpose of the Study:
- To screen a pre-selected cohort for pyruvate kinase deficiency.
- To identify and characterize mutations in the R-PK gene associated with low enzyme activity.
Main Methods:
- Screening of 146 patients pre-selected from 4017 individuals based on hematological indices.
- Measurement of pyruvate kinase activity in erythrocytes.
- Identification of mutations in the coding sequence of the R-PK gene.
Main Results:
- Average PK activity in the patient cohort was 1.9% IU/g Hb, significantly lower than the 3.9-9.8 IU/g Hb range in healthy adults.
- Fourteen different mutations were identified in the R-PK gene in 74 individuals.
- G1168A and G1529A mutations in exon 11 were the most common, found in 54% of cases.
Conclusions:
- The study successfully identified numerous R-PK gene mutations in patients with low pyruvate kinase activity.
- Common mutations like G1168A and G1529A are significant contributors to PK deficiency.
- Linkage disequilibrium suggests a multi-centric origin for these mutations, warranting further investigation into regulatory regions.
Abstract:
We present the results of screening for pyruvate kinase (PK) deficiency on a cohort of 146 patients pre-selected from 4017 individuals by hematological index analysis. On average the PK activity levels measured in this cohort study were about 1.9% IU/g Hb while the activity measured in 85 healthy adults with normal erythrocyte indexes was in the range of 3.9-9.8 IU/g Hb. We were able to define 14 different mutations in the coding sequence of the R-PK gene in 74 individuals with low enzyme activity. The most common were the G1168A and G1529A mutations at exon 11 occurring in 54% of the cases. Other mutations occurring more than once were C1492T, C1456T, G1291A, C1594T, G787A, G994A, and G1010C. The polymorphism at nt 1705 was in linkage disequilibrium with the A and C polymorphism, which indicated a multi-centric origin of the mutation. Further study of the promoter region and intron/exon boundary is under investigation.
