Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
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DOI：
10.1097/01.gim.0000139506.11694.7c
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发表时间：
2004-09
期刊：
影响因子：
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通讯作者：
Grody WW
中科院分区：
文献类型：
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作者：
Watson MS;Cutting GR;Desnick RJ;Driscoll DA;Klinger K;Mennuti M;Palomaki GE;Popovich BW;Pratt VM;Rohlfs EM;Strom CM;Richards CS;Witt DR;Grody WW
2001年4月，美国医学遗传学学会（ACMG）囊性纤维化（CF）携带者筛查工作组推荐了一组突变和变异，作为人群筛查计划的一部分，应进行测试以确定CFTR基因内的携带者状态。这最初是为了响应NIH CF共识会议的建议，即所有夫妇都应考虑在怀孕前或产前进行CF携带者筛查。3当时，工作组认识到我们对几个CF等位基因的群体频率的理解存在局限性，并建议在项目的前两年后审查突变分布数据。2002年，作为持续努力的一部分，以确保囊性纤维化携带者筛查计划是当前的科学文献和其他可用的数据和实践，我们启动了第二次审查数据的突变分布在不同的种族群体，我们开始评估是否提供者在提供这项服务时遇到了挑战。4目前CF基金会患者突变数据库中可用于分析的CF患者染色体数量几乎是2000年的两倍。本报告概述了工作组的主要建议，并说明了这些决定的支持理由。这期《医学遗传学》中的一些文章提供了我们做出决定所依据的一些数据，而其他文章则提供了与该主题相关的新信息。
In April 2001, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group recommended a panel of mutations and variants that should be tested to determine carrier status within the CFTR gene as a part of population screening programs. 1, 2 This was initially done in response to the recommendations of an NIH CF Consensus Conference that CF carrier screening be considered by all couples for use before conception or prenatally. 3 At that time, the Working Group recognized limitations in our understanding of the population frequencies of several CF alleles and proposed to review mutation distribution data after the first two years of the program. In 2002, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current with respect to the scientific literature and other available data and practices, we initiated a second review of data on the distribution of mutations in different ethnic groups and we began to assess whether providers were experiencing challenges in delivering this service. 4 The current CF Foundation patient mutation database includes nearly double the number of CF patient chromosomes available for analysis in 2000. This report summarizes the major recommendations of our Working Group with the supporting justification for these decisions. A number of articles in this issue of Genetics in Medicine provide some of the data on which our decisions were made, whereas others provide new information related to this topic.