Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis

被引:6
作者
Yavarian, M. [1 ]
Karimi, M. [1 ]
Shahriary, M. [1 ]
Afrasiabi, A. R. [1 ]
机构
[1] Shiraz Univ Med Sci, Sch Med, Hematol Res Ctr, Shiraz, Iran
关键词
pyruvate kinase; PK-LR gene mutations; prevalence; Iran;
D O I
10.1016/j.bcmd.2007.08.008
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 GI 168A and GI 529A mutations at exon 11 occurring in 54% of the cases. Other mutations occurring more than once were C1492T, C1456T, GI 291A, 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. (C) 2007 Elsevier Inc. All rights reserved.
引用
收藏
页码:308 / 311
页数:4
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