Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis
Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis
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DOI：
10.1016/j.bcmd.2007.08.008
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发表时间：
2008-05-01
影响因子：
2.3
通讯作者：
Afrasiabi, A. R.
中科院分区：
文献类型：
--
作者：
Yavarian, M.;Karimi, M.;Afrasiabi, A. R.
我们报告了通过血液学指标分析从4017个人中预先选择146名患者筛选丙酮酸激酶（PK）缺乏症的结果。该队列研究中测定的PK活性水平平均约为1.9% IU/g Hb，而在85名红细胞指数正常的健康成人中测定的活性在3.9-9.8 IU/g Hb之间。我们能够在74个酶活性低的个体中定义14种不同的R-PK基因编码序列突变。最常见的是GI 168A和GI 529A外显子11突变，发生在54%的病例中。其他不止一次发生的突变有C1492T、C1456T、GI 291A、C1594T、G787A、G994A和G1010C。n1705位点多态性与A、C多态性存在连锁不平衡，表明该突变具有多中心起源。对启动子区域和内含子/外显子边界的进一步研究正在进行中。(C) 2007爱思唯尔公司版权所有。
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.