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唐氏综合征、爱德华兹综合征、帕陶氏综合征——糖胺聚糖的合成

Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans.

作者信息

Kukharenko V, Sheleg S, Freudine M, Pichugina E, Delvig A

机构信息

Research Center of Medical Genetics RAMS, Moscow, Russia.

出版信息

Hum Genet. 1994 Jul;94(1):80-2. doi: 10.1007/BF02272847.

Abstract

Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between postnatal aneuploid strains and controls.

摘要

在细胞培养中研究了来自7名唐氏综合征患者、5名爱德华兹综合征患者和2名帕陶氏综合征患者的成纤维细胞合成糖胺聚糖(GAGs)的情况。将非整倍体菌株与年龄匹配的对照的二倍体成纤维细胞进行比较。就透明质酸和硫酸化GAG的合成而言,产后非整倍体菌株与对照之间合成的透明质酸量没有显著差异。

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