囊性纤维化的产前诊断方法

Prenatal diagnostic options in cystic fibrosis.

作者信息

Gilbert F, Tsao K L, Mendoza A, Mulivor R, Gluckson M M, Denning C R

机构信息

Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029.

出版信息

Am J Obstet Gynecol. 1988 Apr;158(4):947-52. doi: 10.1016/0002-9378(88)90099-3.

DOI:10.1016/0002-9378(88)90099-3

PMID:2896462

Abstract

There are currently two diagnostic options in cystic fibrosis. These involve assays for certain microvillar enzyme activities in amniotic fluid and recombinant deoxyribonucleic acid studies of markers linked to the cystic fibrosis gene on chromosome 7. The former are reduced in cystic fibrosis homozygotes; the latter make it possible to determine the particular pattern of chromosome 7 markers predictive of a cystic fibrosis homozygote in a specific family. However, neither test is appropriate for, applicable to, or informative in all families. The problems and potential of each approach are discussed.

摘要

目前，囊性纤维化有两种诊断方法。一种是检测羊水某些微绒毛酶的活性，另一种是对与7号染色体上囊性纤维化基因相关的标记物进行重组脱氧核糖核酸研究。在囊性纤维化纯合子中，前者的活性会降低；后者则能够确定7号染色体标记物的特定模式，从而预测特定家族中的囊性纤维化纯合子。然而，这两种检测方法都并非适用于所有家庭，也不能为所有家庭提供足够信息。本文将讨论每种方法存在的问题及潜在应用价值。