新生儿囊性纤维化筛查：波兰采用 CFTR 测序策略的 4 年经验。
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
机构信息
Institute of Mother and Child, Kasprzaka, Warsaw, Poland.
出版信息
Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15.
Abstract
Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1,212,487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.
摘要
波兰于 2006 年 9 月开始进行囊性纤维化（CF）新生儿筛查。本研究总结了 4 年的经验。采用免疫反应性胰蛋白酶/DNA 测序策略。在该计划中，对 1212487 名新生儿进行了囊性纤维化筛查。在此期间，我们共发现 221 例 CF 病例，其中 4 例 CF 病例被报告为 NBS CF 漏筛。根据该计划结果，波兰的疾病发病率估计为 1/4394，携带者频率为 1/33。F508del 的频率与之前报道的人群数据相似（62%）。该策略使我们能够识别 29 例罕见基因型的受影响婴儿。波兰首次评估了一些突变（例如 2184insA、K710X）的频率。因此，测序分析似乎是波兰人群使用血斑进行筛查计划的准确方法。
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