两名18三体综合征患者的成纤维细胞与正常人二倍体成纤维细胞相比，肽酶A活性增加了1.5倍。
Fibroblasts of two patients with trisomy 18 show 1.5-fold increase in peptidase A activity over normal human diploid fibroblasts.
作者信息
Namba M, Nakatsuka S, Etoh H, Kataoka N, Kimoto T
机构信息
Department of Pathology, Kawasaki Medical School, Kurashiki, Japan.
出版信息
Clin Genet. 1988 Sep;34(3):161-4. doi: 10.1111/j.1399-0004.1988.tb02856.x.
Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. Agar gel electrophoretic analysis revealed no detectable differences in the electrophoretic mobility and isoenzyme patterns of Pep A between the trisomy 18 fibroblasts and normal ones. The present results show the trisomy 18 fibroblasts to be suitable for study of the gene dosage effect of Pep A.
对来自两名18三体综合征患者培养的成纤维细胞以及正常个体的成纤维细胞进行了生物化学检测，以研究定位于18号染色体q23区域的肽酶A（Pep A）活性。18三体综合征的成纤维细胞中Pep A活性比对照成纤维细胞约高1.5倍。琼脂凝胶电泳分析显示，18三体综合征成纤维细胞和正常成纤维细胞的Pep A电泳迁移率和同工酶模式没有可检测到的差异。目前的结果表明，18三体综合征成纤维细胞适合用于研究Pep A的基因剂量效应。
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