21三体综合征患儿父母中性粒细胞碱性磷酸酶的细胞化学和生物化学研究
Cytochemical and biochemical studies on neutrophil alkaline phosphatase in parents of trisomy 21 children.
作者信息
Grozdea J, Maret A, Vergnes H, Bourrouillou G, Verdier J, Martin J, Salvayre R, Colombies P
出版信息
Hum Genet. 1984;67(3):313-6. doi: 10.1007/BF00291360.
A study of karyotypes and neutrophil alkaline phosphatase (NAP) was carried out for 66 parents (33 couples) of trisomy 21 children and for 60 control parents (30 couples). Enzyme activity was determined simultaneously by biochemical and cytochemical techniques. In the mothers of trisomy 21 children we found: (a) by biochemical techniques, a significant increase of NAP activity in polymorphonuclear leukocyte (PMN) homogenates (P less than 0.01) and a lower supernatant/pellet ratio (P less than 0.01); (b) by cytochemical techniques (with or without thermal and urea treatments) NAP activity was significantly higher (P less than 0.001) than in control mothers; in the fathers, the two techniques gave normal NAP activity results.
对66名21三体患儿的父母（33对夫妇）和60名对照父母（30对夫妇）进行了核型和中性粒细胞碱性磷酸酶（NAP）研究。通过生化和细胞化学技术同时测定酶活性。在21三体患儿的母亲中，我们发现：（a）通过生化技术，多形核白细胞（PMN）匀浆中NAP活性显著增加（P<0.01），上清液/沉淀比降低（P<0.01）；（b）通过细胞化学技术（无论有无热和尿素处理），NAP活性显著高于对照母亲（P<0.001）；在父亲中，这两种技术得到的NAP活性结果正常。
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