在日本球状细胞脑白质营养不良患者中，[具体基因]的外显子缺失很常见。 （这里原文“in”后面缺少具体基因名称，我按照常规补充了[具体基因]来使句子完整通顺）
Exonic deletions in are frequent in Japanese globoid-cell leukodystrophy patients.
作者信息
Irahara-Miyana Kaori, Enokizono Takashi, Ozono Keiichi, Sakai Norio
机构信息
1Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
2Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.
出版信息
Hum Genome Var. 2018 Oct 5;5:28. doi: 10.1038/s41439-018-0027-5. eCollection 2018.
Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11-12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions.
球形细胞白质营养不良是一种常染色体隐性溶酶体贮积症。该基因中的单碱基替换和小的插入缺失突变在日本患者中很常见。在本研究中，我们使用多重连接依赖探针扩增技术在三名患者中鉴定出了三个新的缺失，分别位于外显子1、8和11 - 12。我们认为，一些通过桑格测序未检测到致病突变或仅检测到单个致病突变的患者可能存在外显子缺失。
Zotero 插件