Curtis A, Strain L, Mennie M, Holloway S, Raeburn J A, Besley G T, Brock D J
Human Genetics Unit, University of Edinburgh, Western General Hospital, U.K.
Prenat Diagn. 1988 Oct;8(8):625-8. doi: 10.1002/pd.1970080810.
First-trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.
利用连锁DNA标记对囊性纤维化（CF）进行孕早期产前诊断，通常只有在有一个患病索引儿童来确定亲代染色体单倍型的情况下才有可能。我们描述了一例产前诊断，从一名已故患病儿童的皮肤培养成纤维细胞，然后冷冻保存3年，以此作为追踪CF基因的起点。胎儿被诊断为纯合正常，出生后通过免疫反应性胰蛋白酶检测得到证实。同时也有可能确定患病儿童姑姑的杂合性。
