Curtis A, Strain L, Mennie M, Brock D J
Human Genetics Unit, University of Edinburgh, Western General Hospital.
J Med Genet. 1988 Feb;25(2):79-82. doi: 10.1136/jmg.25.2.79.
Tissues from eight fetuses, diagnosed on the basis of amniotic fluid microvillar enzyme assay as having cystic fibrosis, were conserved in frozen storage for up to three years. Adequate samples of undegraded DNA could be extracted from small intestine, lung, and liver. DNA typing, with restriction fragment length polymorphisms tightly linked to the cystic fibrosis gene, showed all eight diagnoses to have been correct. Determining the DNA genotype of fetal material can also be used to establish the linkage relationship between markers and the cystic fibrosis gene, and will permit subsequent first trimester prenatal diagnosis for couples who have no living affected child.
通过羊水微绒毛酶测定诊断为患有囊性纤维化的8名胎儿的组织，被冷冻保存长达三年。可以从小肠、肺和肝脏中提取足够的未降解DNA样本。利用与囊性纤维化基因紧密连锁的限制性片段长度多态性进行DNA分型，结果显示所有8例诊断均正确。确定胎儿材料的DNA基因型还可用于建立标记物与囊性纤维化基因之间的连锁关系，并将为没有现存患病子女的夫妇提供孕早期产前诊断。
