Schmidtke J, Krawczak M
Institut für Humangenetik, Universität Göttingen.
Monatsschr Kinderheilkd. 1987 Dec;135(12):805-10.
Cystic fibrosis is one of the commonest genetic disorders with about 1 in 3000 newborns being affected. The molecular etiology of the disease is still not known. In spite of improved therapy the life expectancy is markedly reduced. Many parents of a child affected by CF request a prenatal diagnosis, when a further child is expected. By using molecular genetic methods the prenatal detection of CF is possible now with great accuracy in most families. This review describes the principles of the genetics and the diagnosis of the disease. Case reports illustrate risk figure ascertainment. Preconditions for performing the diagnosis in individual cases are outlined, and a guide to the practical approach is given.
囊性纤维化是最常见的遗传性疾病之一，每3000名新生儿中约有1人受其影响。该疾病的分子病因仍不清楚。尽管治疗有所改善，但预期寿命仍显著缩短。许多患有囊性纤维化孩子的父母在计划再要一个孩子时，都要求进行产前诊断。通过分子遗传学方法，现在大多数家庭都能非常准确地进行囊性纤维化的产前检测。这篇综述描述了该疾病的遗传学原理和诊断方法。病例报告说明了风险数据的确定。概述了个别病例进行诊断的前提条件，并给出了实际操作方法指南。
