Grozdea J, Vergnes H, Brisson-Lougarre A, Bourrouillou G, Martin J, Blum C, Colombies P
Service Universitaire d'Hématologie, INSERM, CNRS, CHU de Rangueil, Toulouse, France.
Hum Genet. 1988 Mar;78(3):240-3. doi: 10.1007/BF00291669.
Neutrophil alkaline phosphatase (NAP) was analysed in 25 pregnant women with trisomy 21 foetuses whose chromosomal aberration was recognized by cytogenetic study after amniocentesis. Enzyme investigation was performed at 20-22 weeks of gestation using cytochemical and biochemical techniques. Twenty-nine women at the same stage of normal pregnancies were selected as controls. In parallel, each mother was karyotyped. Ten subjects from each series underwent biochemical and immunological investigation: measurement of enzyme levels, thermostability study and immunological tests with alkaline phosphatase isoenzyme antibodies. NAP from pregnant women with trisomy 21 foetuses was characterized by: (1) a lower rate of enzyme activity, (2) a large amount of heat-stable enzyme (T = 56 degrees C for biochemical assays, T = 85 degrees C for cytochemical tests), and (3) a marked loss of liver antigenicity. These findings suggest the presence in trisomy 21 pregnancies of a non-specific alkaline phosphatase isoenzyme which appears as an "enzyme marker" in maternal circulating neutrophils.
对25名怀有21三体胎儿的孕妇进行了中性粒细胞碱性磷酸酶(NAP)分析,这些孕妇在羊膜穿刺术后经细胞遗传学研究确认了染色体异常。在妊娠20 - 22周时,使用细胞化学和生化技术进行酶学研究。选择29名处于相同孕周的正常孕妇作为对照。同时,对每位母亲进行核型分析。每个系列中的10名受试者接受了生化和免疫学研究:酶水平测定、热稳定性研究以及用碱性磷酸酶同工酶抗体进行的免疫学检测。怀有21三体胎儿的孕妇的NAP具有以下特征:(1)酶活性率较低;(2)大量热稳定酶(生化测定中T = 56℃,细胞化学测试中T = 85℃);(3)肝脏抗原性明显丧失。这些发现表明,21三体妊娠中存在一种非特异性碱性磷酸酶同工酶,它在母体循环中性粒细胞中表现为一种“酶标志物”。