Hejtmancik J F, Sifers R N, Ward P A, Harris S, Mansfield T, Cox D W
Lancet. 1986 Oct 4;2(8510):767-70. doi: 10.1016/s0140-6736(86)90297-7.
Prenatal diagnosis of sixteen pregnancies at risk for alpha 1-antitrypsin (AAT) deficiency has been achieved by restriction fragment length polymorphism (RFLP) analysis and compared with diagnostic results using hybridisation of M and Z specific oligonucleotides. The results of both tests were in accord for all samples, although under routine laboratory conditions RFLP analysis was more reliable. Because RFLP analysis does not depend on the type of mutation it was possible, in the product of an MZ and SZ mating, to predict an MZ rather than an MS phenotype using the RFLP method. The strong linkage dysequilibrium between an AvaII RFLP and the Z allele increases its diagnostic usefulness. Even so it seems reasonable to use oligonucleotide analysis in families where no siblings are available for comparison. In all other situations RFLP analysis is as accurate and reliable as oligonucleotide analysis and is technically easier, making it the preferred means of diagnosis for informative kindreds.
通过限制性片段长度多态性（RFLP）分析对16例有α1-抗胰蛋白酶（AAT）缺乏风险的妊娠进行了产前诊断，并与使用M和Z特异性寡核苷酸杂交的诊断结果进行了比较。尽管在常规实验室条件下RFLP分析更可靠，但两种检测方法对所有样本的结果均一致。由于RFLP分析不依赖于突变类型，因此在MZ和SZ交配的子代中，使用RFLP方法有可能预测出MZ而非MS表型。AvaII RFLP与Z等位基因之间强烈的连锁不平衡增加了其诊断价值。即便如此，在没有可供比较的同胞的家庭中，使用寡核苷酸分析似乎也是合理的。在所有其他情况下，RFLP分析与寡核苷酸分析一样准确可靠，并且技术上更简便，使其成为有信息价值家系的首选诊断方法。
