Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
复制标题
对德系犹太人群体进行全面的人群筛查，以发现复发性致病变异。
DOI：
10.1111/cge.12834
复制
发表时间：
2017
影响因子：
3.5
通讯作者：
Kornreich,R
中科院分区：
文献类型：
--
作者：
Shi,L;Webb,BD;Birch,AH;Elkhoury,L;McCarthy,J;Cai,X;Oishi,K;Mehta,L;Diaz,GA;Edelmann,L;Kornreich,R
德系犹太人（AJ）人口由于历史创始人效应和遗传漂变而增加了各种隐性疾病的风险。对于一些人来说，致病的创始人突变已经被确定并得到了很好的表征，但对于其他人来说，进一步的研究是必要的。本研究的目的是评估AJ人群中引起29种隐性疾病的85种致病变异的携带频率。通过Luminex Magnetic ®‐TAG™微珠阵列或Dopa Bioscience™MassARRAY测定对多达3000个AJ个体进行基因分型。我们确定了7种载波频率高于1/100的情况，9种在1/100和1/200之间，4种在1/200和1/500之间。在9种条件下的变异体检测到的携带率小于1/500，或者在约2000名AJ个体中未发现。我们评估了18种相对流行疾病的AJ合并携带频率为1/6，AJ个体成为这18种疾病之一的携带者夫妇的风险为1/441。我们注意到，AJ携带者筛查小组应考虑额外的隐性遗传条件。
The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease‐causing founder mutations have been identified and well‐characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in the AJ population. Up to 3000 AJ individuals were genotyped by Luminex MagPlex®‐TAG™bead array or Agena Bioscience™MassARRAY assays. We identified seven conditions with carrier frequencies higher than 1 in 100, nine between 1 in 100 and 1 in 200, and four between 1 in 200 and 1 in 500. Variants in nine conditions had a detected carrier rate of less than 1 in 500 or were not identified in approximately 2000 AJ individuals. We assessed the combined AJ carrier frequency for 18 relatively prevalent diseases to be 1 in 6, and the risk of AJ individuals to be a carrier couple for one of these 18 diseases as 1 in 441. We note additional recessive genetic conditions should be considered for AJ carrier screening panels.