Gorbunova V N, Romanenko O P, Vakharlovskiĭ V G, Pigina T V, Kalashnikova E P, Moiseenko M M, El'gart I Ia, Baranov V S
Genetika. 1989 Sep;25(9):1664-72.
The activity of microvillar enzymes--gamma-glutamyltranspeptidase, aminopeptidase, general and intestinal forms of alkalyne phosphotases was studied in amniotic fluid (AF) of 33 women with 25% risk of cystic fibrosis (CF) (mucoviscidoses) in their progeny. The figures obtained in this group were compared with corresponding values of the same enzymes in 100 AF samples from normal pregnancies (negative control) and with 9 AF samples from women which were known to give birth to the children with CF (positive control). CF has been predicted in 5 cases, pregnancies were artificially terminated in 4 women. Biochemical CF prediction was proved by immunochemical assay of albumin contents in meconium of fetal ileum. One woman from the high risk group refused abortion and gave birth to a CF child. Among 26 cases of low CF prediction, 13 resulted in birth of a child without a sign of CF, one - in a child with clear-cut diagnosis of CF and 12 other pregnancies still proceed. The efficiency of complex biochemical, pathomorphological and molecular approaches for verification of intrauterine CF diagnosis in aborted fetuses as well as for detection of heterozygous carriers of CF gene and prenatal diagnosis of CF is discussed.
对33名后代患囊性纤维化(CF)(黏液黏稠症)风险为25%的女性的羊水(AF)中的微绒毛酶——γ-谷氨酰转肽酶、氨肽酶、碱性磷酸酶的一般形式和肠型的活性进行了研究。将该组获得的数据与来自正常妊娠的100份AF样本(阴性对照)中相同酶的相应值以及来自已知生下CF患儿的女性的9份AF样本(阳性对照)进行了比较。预测有5例为CF,4名女性人工终止了妊娠。通过对胎儿回肠胎粪中白蛋白含量的免疫化学测定证实了生化CF预测。高风险组中的一名女性拒绝堕胎并生下了一名CF患儿。在26例CF预测可能性低的病例中,13例生下的孩子没有CF迹象,1例生下的孩子被明确诊断为CF,另外12例妊娠仍在继续。讨论了用于验证流产胎儿宫内CF诊断以及检测CF基因杂合携带者和CF产前诊断的复杂生化、病理形态学和分子方法的有效性。