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在产前诊断中使用抗酸性α-D-葡萄糖苷酶单克隆抗体进行酶抑制试验以鉴定庞贝病纯合子。

Enzyme inhibitory assay using monoclonal antibody against acid alpha-D-glucosidase in prenatal diagnosis to identify homozygotes of Pompe's disease.

作者信息

Wei C Y, Yeh G P, Chen H F, Wang L Y, Lin C Y

机构信息

Department of Pediatrics, Veterans General Hospital, Taipei, Taiwan, R.O.C.

出版信息

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Mar-Apr;33(2):104-11.

PMID:1514400
Abstract

From January 1985 to January 1990, measurements of acid alpha-D-glucosidase activity in amniocytes or chorionic villus samplings were done for 24 pregnant mothers who were carriers of Pompe's disease. 6 women had two subsequent pregnancies. Amniotic fluid was obtained by transabdominal amniocentesis performed on 10 of them, while chorionic villus samplings were obtained in the other 20. The results showed that 7 (23.3%) cases were homozygotes, 16 (53.4%) cases were heterozygotes, and 7 (23.3%) cases were normal. Pregnancies were terminated in the homozygotic group. Final diagnosis was confirmed by either skin fibroblast culture or clinical course. However, we found that there was overlap in the acid alpha-D-glucosidase activity of amniocytes between homozygotes and heterozygotes due to residual activity of neutral alpha-D-glucosidase. In an attempt to identify heterozygotes for Pompe's disease, we established an enzyme inhibitory assay using monoclonal antibody (mAb) against acid alpha-D-glucosidase. Comparing the differences in alpha-D-glucosidase activity before and after mAb treatment the homozygotes were significantly lower than heterozygotes (P less than 0.001). There was no more overlap in the difference of acid alpha-D-glucosidase activity before and after mAb treatment between heterozygotes and homozygotes in amniocytes. This modified enzyme inhibitory assay should facilitate homozygote detection. Comparing acid alpha-D-glucosidase activity between CVS and amniocytes, the enzyme activity in CVS is about 5 times higher than in amniocytes. There was no overlap in the acid alpha-D-glucosidase activity between homozygotes and heterozygotes. Therefore, CVS is better than amniocentesis in the prenatal diagnosis of Pompe's disease.

摘要

1985年1月至1990年1月,对24名庞贝病携带者孕妇的羊膜细胞或绒毛取样进行了酸性α-D-葡萄糖苷酶活性检测。6名女性有两次后续妊娠。其中10名通过经腹羊膜穿刺术获取羊水,另外20名获取绒毛取样。结果显示,7例(23.3%)为纯合子,16例(53.4%)为杂合子,7例(23.3%)正常。纯合子组终止妊娠。最终诊断通过皮肤成纤维细胞培养或临床病程得以证实。然而,我们发现由于中性α-D-葡萄糖苷酶的残留活性,纯合子和杂合子羊膜细胞中的酸性α-D-葡萄糖苷酶活性存在重叠。为了鉴定庞贝病杂合子,我们建立了一种使用抗酸性α-D-葡萄糖苷酶单克隆抗体(mAb)的酶抑制试验。比较mAb处理前后α-D-葡萄糖苷酶活性的差异,纯合子显著低于杂合子(P小于0.001)。羊膜细胞中杂合子和纯合子之间mAb处理前后酸性α-D-葡萄糖苷酶活性差异不再有重叠。这种改良的酶抑制试验应有助于纯合子检测。比较绒毛取样(CVS)和羊膜细胞中的酸性α-D-葡萄糖苷酶活性,CVS中的酶活性比羊膜细胞高约5倍。纯合子和杂合子之间的酸性α-D-葡萄糖苷酶活性没有重叠。因此,在庞贝病的产前诊断中,CVS比羊膜穿刺术更好。

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