Morris A, Boyd E, Dhanjal S, Lowther G W, Aitken D A, Young J, Menzies A L, Imrie S J, Connor J M
West of Scotland Regional Genetics Service, Yorkhill NHS Trust, Glasgow, UK.
Prenat Diagn. 1999 Jun;19(6):546-51.
A probe was generated from the YAC clone 831B9 that was suitable for the prenatal detection of trisomy 21 using fluorescence in situ hybridization (FISH). This probe was initially tested on a series of 650 unselected amniotic fluid samples prior to the karyotype being available. 630 were correctly identified as having two copies and 13 samples were correctly scored as having three copies of chromosome 21. Seven samples failed to produce a result. A trial was then initiated, reporting to clinicians the interphase FISH results before cytogenetic analysis had been performed. During the first 18 months of this trial 1504 samples were tested: 1467 were correctly identified as disomic and 35 samples were correctly scored as trisomic for chromosome 21. Two samples failed to produce a result. A chromosome 18 specific probe (LI.84) was employed where there was a relevant clinical indication (181 samples) and 10 samples were correctly scored as having three copies of chromosome 18. Thus, this approach appears to be reliable and is popular with both clinicians and patients due to the speed of the result. However, it does not replace chromosomal analysis on cultured cells, which detected a range of abnormalities besides the trisomies and triploidies detected by FISH.
从YAC克隆831B9中制备了一种探针，该探针适用于使用荧光原位杂交（FISH）对21三体进行产前检测。在核型分析结果出来之前，该探针首先在650份未经选择的羊水样本系列上进行了测试。630份样本被正确鉴定为有两份拷贝，13份样本被正确判定为有三份21号染色体拷贝。7份样本未得出结果。然后启动了一项试验，在进行细胞遗传学分析之前，向临床医生报告间期FISH结果。在该试验的前18个月中，共检测了1504份样本：1467份被正确鉴定为二体，35份样本被正确判定为21号染色体三体。两份样本未得出结果。在有相关临床指征的情况下（181份样本）使用了18号染色体特异性探针（LI.84），10份样本被正确判定为有三份18号染色体拷贝。因此，这种方法似乎是可靠的，并且由于结果得出速度快，受到临床医生和患者的欢迎。然而，它不能替代对培养细胞的染色体分析，后者除了能检测到FISH所检测的三体和三倍体外，还能检测到一系列异常情况。
