Christian C L
Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, California.
Clin Perinatol. 1990 Dec;17(4):779-91.
Since 1983, prenatal diagnosis for CF has been available. The indirect method of microvillar intestinal enzyme analysis was first used, followed by DNA linkage studies by RFLPs, and then aided by disequilibrium data. The past year has brought new promise with the identification of the CF gene and of a single amino acid deletion that is present in 70% of the gene mutations. In the next several years, it is hoped that the remaining mutations will be found, thus increasing the accuracy of prenatal diagnosis by direct detection of the mutations and allowing for carrier testing of the general population.
自1983年以来，囊性纤维化（CF）的产前诊断技术已经问世。最初采用的是微绒毛肠道酶分析的间接方法，随后是通过限制性片段长度多态性（RFLPs）进行DNA连锁研究，再后来则借助不平衡数据。过去一年，随着CF基因的鉴定以及发现70%的基因突变中存在单个氨基酸缺失，带来了新的希望。在未来几年，人们希望能找到其余的突变，从而通过直接检测突变提高产前诊断的准确性，并对普通人群进行携带者检测。
