Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.
复制标题
羊水细胞培养物中精氨基琥珀酸合成酶活性的变化：对瓜氨酸血症产前诊断的影响。
DOI：
10.1016/0009-8981(81)90162-5
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Boué,J
中科院分区：
文献类型：
--
作者：
Jacoby,LB;Shih,VE;Struckmeyer,C;Niermeijer,MF;Boué,J
从25个正常胎儿和2个有瓜氨酸血症风险的胎儿的羊水细胞培养中测定精氨酸琥珀酸合成酶活性。在25个对照系中，在上皮样培养物中，氨基琥珀酸合成酶低，而在成纤维细胞样培养物中，氨基琥珀酸合成酶高。14 C-瓜氨酸掺入蛋白质的放射性与γ-氨基琥珀酸合成酶活性成正比。尿素循环中的下一个酶--精氨琥珀酸合成酶低，但在两个有瓜氨酸血症风险的胎儿细胞中可检测到。继续妊娠，结果均为临床正常的雌性动物。因此，主要细胞类型等因素可能会影响培养的羊水细胞中尿素循环酶的活性，因此在尝试产前瓜氨酸血症时应予以考虑。
Argininosuccinate synthetase activity was measured in amniotic fluid cells cultured from 25 normal fetuses and from 2 fetuses at risk for citrullinemia. Among the 25 control lines, argininosuccinate synthetase was low in epithelial-like cultures and high in more fibroblast-like cultures. The radioactivity incorporated from14C-citrulline into protein was proportional to argininosuccinate synthetase activity. The activity of argininosuccinate lyase, the next enzyme in the urea cycle, was unaffected by a predominance of one or the other cell type. Argininosuccinate synthetase was low but detectable in cells from the two fetuses at risk for citrullinemia. The pregnancies were continued and both resulted in clinically normal females. Thus factors such as predominant cell type may affect urea cycle enzyme activity in cultured amniotic fluid cells and should be taken into consideration in attempts to diaenose citrullinemia prenatally.