title: Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.
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.
authors.affiliation: Hematology Research Center, School of Medicine, Shiraz University of Medical Science, Shiraz, Iran. yavarian@sums.ac.ir
authors.forename: M
authors.initials: M
authors.lastname: Yavarian
authors.forename: M
authors.initials: M
authors.lastname: Karimi
authors.forename: M
authors.initials: M
authors.lastname: Shahriary
authors.forename: A R
authors.initials: AR
authors.lastname: Afrasiabi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007492:Iran; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D015995:Prevalence; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase