Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
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DOI：
10.1182/blood.v95.11.3585.011k39_3585_3588
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发表时间：
2000-06-01
期刊：
影响因子：
20.3
通讯作者：
Gelbart, T
中科院分区：
文献类型：
--
作者：
Beutler, E;Gelbart, T
丙酮酸激酶(PK)缺乏是遗传性非球形细胞溶血性贫血最常见的原因。这种缺乏的流行程度尚不清楚，尽管已经根据人群中红细胞PK活性低的频率进行了一些估计。另有20例因PK缺乏引起的遗传性非球形细胞溶血性贫血患者进行了基因分型。发现了一个此前未报道的突变1153C-->；T(R385W)。由PK缺乏引起的溶血性贫血患者的PK突变的相对频率是根据本文报告的18例白人患者和先前文献中报告的102例患者计算的。来自不同种族的3785名受试者的DNA样本已经通过等位基因特异的寡核苷酸杂交法筛选出了4种更常见的突变--c.1456C->；T(1456T)、c.1468C--gt；T(1468T)、c.1484C--gt；T(1484T)和c.1529G6A(1529A)。在白人患者中，1456T突变频率为3.50×10(-3)，1529A突变频率为2.03×10(-3)。在非裔美国人中，1456T突变的频率为3.90x10(-3)，在有限数量的亚洲人中唯一发现的突变是1468T，突变频率为7.94x10(-3)。根据1529A突变在白人人群中的基因频率及其在PK缺乏引起的溶血性贫血患者中的相对丰度，PK缺乏的患病率估计为每百万白人中有51例。这一数字会因近亲交配而增加，因PK缺乏症患者无法存活而减少。(血。2000；95：3585-3588)(C)2000由美国血液病学会提供。
Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. The prevalence of this deficiency is unknown, though some estimates have been made based on the frequency of low red cell PK activity in the population. An additional 20 patients with hereditary nonspherocytic hemolytic anemia caused by PK deficiency have been genotyped. One previously unreported mutation 1153C-->T (R385W) was encountered. The relative frequency of PK mutations in patients with hemolytic anemia caused by PK deficiency was calculated from the 18 white patients reported here and from 102 patients previously reported in the literature. DNA samples from 3785 subjects from different ethnic groups have been screened for the 4 more frequently encountered mutations-c.1456 C-->T(1456T), c.1468 C-->T(1468T), c.1484 C-->T(1484T), and c.1529 G6A (1529A)-by allele-specific oligonucleotide hybridization. Among white patients the frequency of the 1456T mutation was 3.50 x 10(-3); that of the 1529A mutation was 2.03 x 10(-3). Among African Americans the frequency of the 1456T mutation was 3.90 x 10(-3) The only mutation found in the limited number of Asians tested was 1468T at a frequency of 7.94 x 10(-3). Based on the gene frequency of the 1529A mutation in the white population and on its relative abundance in patients with hemolytic anemia caused by PK deficiency, the prevalence of PK deficiency is estimated at 51 cases per million white population. This number would be increased by inbreeding and decreased by failure of patients with PK deficiency to survive. (Blood. 2000;95:3585-3588) (C) 2000 by The American Society of Hematology.