Lindeman R, Wallace R, Volpato F, Hu S P, Trent R J
Molecular Genetics Laboratory, University of Sydney.
Pathology. 1991 Apr;23(2):158-63. doi: 10.3109/00313029109060817.
Gene amplification by the polymerase chain reaction (PCR) has been applied to prenatal diagnosis for alpha and beta thalassemias (1 and 5 cases respectively), Hemoglobin (Hb) Lepore/beta thalassemia (1 case) and cystic fibrosis (14 cases). Chorionic villus samples were obtained in the tenth week of pregnancy and DNA analysed in parallel with conventional gene mapping. Direct diagnosis of the common Mediterranean beta-thalassemia mutations (IVS-1-110 and codon 39), Hb Lepore, and the delta F508 mutation causing cystic fibrosis was achieved by hybridization of amplified material with pairs of allele-specific oligonucleotide (ASO) probes or by restriction enzyme digestion of PCR products. Results were confirmed by DNA mapping. Definitive diagnosis or exclusion of an affected fetus was possible in 17 of 21 cases thus examined. PCR reduces the time required for prenatal diagnosis. DNA contamination is a potential source of error.
聚合酶链反应（PCR）基因扩增技术已应用于α和β地中海贫血（分别为1例和5例）、血红蛋白（Hb） Lepore/β地中海贫血（1例）以及囊性纤维化（14例）的产前诊断。在妊娠第10周获取绒毛膜绒毛样本，并与传统基因图谱分析并行进行DNA分析。通过将扩增产物与等位基因特异性寡核苷酸（ASO）探针进行杂交，或通过对PCR产物进行限制性酶切，直接诊断常见的地中海β-地中海贫血突变（IVS-1-110和密码子39）、Hb Lepore以及导致囊性纤维化的ΔF508突变。结果通过DNA图谱分析得以证实。在所检测的21例病例中，有17例能够明确诊断或排除受影响的胎儿。PCR缩短了产前诊断所需的时间。DNA污染是一个潜在的误差来源。
