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随着携带者筛查范围的扩大,奠基者群体有被忽视的风险。

With expanded carrier screening, founder populations run the risk of being overlooked.

作者信息

Mathijssen Inge B, van Maarle Merel C, Kleiss Iris I M, Redeker Egbert J W, Ten Kate Leo P, Henneman Lidewij, Meijers-Heijboer Hanne

机构信息

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

出版信息

J Community Genet. 2017 Oct;8(4):327-333. doi: 10.1007/s12687-017-0309-5. Epub 2017 May 29.

Abstract

Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations. It is therefore important to be aware of founder mutations in a population when offering carrier tests.

摘要

全球存在着基因隔离群体。特定的遗传疾病,包括罕见的常染色体隐性疾病,在这些群体中可能具有较高的患病率。我们搜索了荷兰的基因隔离群体及其常染色体隐性奠基者突变。我们调查了这五种携带者筛查服务提供商的(孕前)扩展携带者筛查测试中是否涵盖了这些奠基者突变。我们的结果表明,这些筛查组合中绝大多数奠基者突变未被涵盖,因此这些组合可能不适用于奠基者群体。所以在提供携带者检测时,了解一个群体中的奠基者突变很重要。

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