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使用针对碱性磷酸酶肝/骨/肾同工酶的单克隆抗体对低磷性骨软化症进行孕早期诊断。

First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase.

作者信息

Warren R C, McKenzie C F, Rodeck C H, Moscoso G, Brock D J, Barron L

出版信息

Lancet. 1985 Oct 19;2(8460):856-8. doi: 10.1016/s0140-6736(85)90124-2.

Abstract

Prenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villus sample taken in the first trimester. Monoclonal antibodies against the liver/bone/kidney (LBK) and placental isoenzymes of ALP were used, and the bound isoenzymes were quantified by an amplification system. Very low activities of the LBK isoenzyme indicated an affected fetus. Diagnosis was confirmed by ultrasound scan at 15 weeks' gestation, and by ALP measurement in amniotic fluid supernatant and fetal serum.

摘要

通过对孕早期采集的绒毛膜绒毛样本进行碱性磷酸酶(ALP)检测,对低磷酸酯酶症进行了产前诊断。使用了针对肝脏/骨骼/肾脏(LBK)碱性磷酸酶同工酶和胎盘碱性磷酸酶同工酶的单克隆抗体,并通过扩增系统对结合的同工酶进行定量。LBK同工酶的活性极低表明胎儿患病。妊娠15周时通过超声扫描以及羊水上清液和胎儿血清中的碱性磷酸酶测量结果证实了诊断。

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