Rethoré M O, Junien C, Malpuech G, Baccichetti C, Tenconi R, Kaplan J C, de Romeuf J, Lejeune J
Ann Genet. 1976 Jun;19(2):140-2.
The enzymatic activity of G3PD and LDH-B in erythrocytes has been assayed in three patients carrying a rearrangement of the short arm of chromosome 12. The first patient is trisomic for the whole short arm. The second is trisomic only for the distal part and the third is monosomic for the proximal part. G3PD: Activity increased in patients 1 and 2 and normal in patient 3. LDH-B: Activity increased in patients 1 and 2 and decreased in patient 3. From these observations it is concluded that the erythrocytic G3PD locus is localized on the distal part of 12p, between 12p12.2 and 12 pter, and that LDH-B locus is on the middle third between 12p12.1 and 12p12.2
对三名携带12号染色体短臂重排的患者的红细胞中甘油醛-3-磷酸脱氢酶(G3PD)和乳酸脱氢酶B(LDH-B)的酶活性进行了测定。第一名患者整个短臂三体。第二名患者仅远端部分三体,第三名患者近端部分单体。G3PD:患者1和2的活性增加,患者3正常。LDH-B:患者1和2的活性增加,患者3的活性降低。从这些观察结果得出结论,红细胞G3PD基因座定位于12p的远端部分,在12p12.2和12p末端之间,而LDH-B基因座在12p12.1和12p12.2之间的中间三分之一处