我们测定了29例 Rb 患者的红细胞酯酶 D 活性。与正常人酶活性值比较,28例在正常范围,1例低于正常。这例 Rb 患者酶活性为66.46,表型为 EsD7-0,通过家系中 EsD 基因的分离分析,患者失去了父源性的EsD~1位点。血淋巴细胞染色体分析,患者核型为46,XX,t(5;13)(p15;q21.1)del(13)(q14.1q21.1),证明了 Rb 位点与 EsD 位点均位于染色体13q14,两者之间紧密连锁。我们的资料表明,Rb 患者红细胞 EsD酶活性下降的频率是低的。文中对在 Rb 患者中进行红细胞 EsD 酶活性测定的意义进行了讨论。 We measured erythrocyte esterase D activity in 29 patients with Rb. Compared with normal human activity, 28 cases were in normal range and 1 case was lower than normal. In this case, the Rb patient had an enzyme activity of 66.46 and a phenotype of EsD7-0. The patient lost the paternal EsD ~ 1 locus by analysis of the EsD gene in the pedigree. Chromosome analysis of blood lymphocytes showed that the karyotype was 46, XX, t (5; 13) (p15; q21.1) del (13) (q14.1q21.1) Chromosome 13q14, closely linked between the two. Our data suggest that Rb patients with decreased erythrocyte EsD enzyme activity is low. This article discusses the significance of the determination of erythrocyte Es D activity in patients with Rb.