Danesino C, D'Azzo A, Maraschio P, Fraccaro M
Hum Genet. 1978 Sep 19;43(3):299-305. doi: 10.1007/BF00278837.
Gene dosage effect for the enzyme peptidase A was studied in the red cells of subjects trisomic (seven cases) or monosomic (five cases) for the segment of chromosome 18 carrying the gene. The individual levels of enzyme activity in both groups were differen from those of the controls, but with a wide overlap. The use of the ratio of the activity of each subject to the midparent activity eliminated the overlapping. The mean ratio was 0.94 for the controls, 2.36 for the trisomics, and 0.41 for the monosomics. The trisomic ratio is higher than expected on the assumption of a linear effect. Correlation with the cytogenetic data in four cases of ring 18 and one of 18q- firmly places the gene for peptidase A on band 18q23.
对携带该基因的18号染色体片段三体(7例)或单体(5例)受试者的红细胞进行了肽酶A基因剂量效应研究。两组个体的酶活性水平均与对照组不同,但有很大重叠。使用每个受试者的活性与中亲活性之比消除了重叠。对照组的平均比值为0.94,三体组为2.36,单体组为0.41。三体组的比值高于线性效应假设下的预期值。在4例18号环状染色体和1例18q-的病例中,将肽酶A基因与细胞遗传学数据进行关联,确定该基因位于18q23带。