首页> 外文期刊>Human Genetics >The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.
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The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.

机译:微细胞介导的人类8号染色体转移可恢复IIIC型粘多糖贮积病患者皮肤成纤维细胞中不足的N-乙酰基转移酶活性。

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摘要

The candidate gene for Mucopolysaccharidosis (MPS) type IIIC has been localized to the pericentric region of the chromosome 8 by the linkage disequilibrium analysis. To validate the localization of the gene, we rescued the deficient acetyl-coenzyme A: alpha-glucosaminide-N-acetylytransferase activity in the cultured cells of MPS IIIC patients by functional complementation via microcell-mediated chromosome transfer. The introduction of the target human monochromosome completely restored the activity confirming functional localization of the candidate gene on human chromosome 8.
机译:通过连锁不平衡分析,IIIC型粘多糖贮积症(MPS)的候选基因已定位于8号染色体的周围区域。为了验证该基因的定位,我们通过微细胞介导的染色体转移通过功能互补,拯救了MPS IIIC患者培养细胞中缺乏的乙酰辅酶A:α-氨基葡萄糖苷-N-乙酰基转移酶活性。靶标人单色体的引入完全恢复了活性,证实了候选基因在人类8号染色体上的功能定位。

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