山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (11): 78-82.doi: 10.6040/j.issn.1671-7554.0.2019.482
• • 上一篇
胡丽萍1,王乐2,金亮1,刘燕霞1,崔东清1,曹丽丽1
HU Liping1, WANG Le2, JIN Liang1, LIU Yanxia1, CUI Dongqing1, CAO Lili1
摘要: 目的 对一个常染色体隐性小脑共济失调1型(ARCA1)家系进行基因测序,以寻找该家系的致病基因。 方法 对1例慢性进行性小脑性共济失调的青年女性患者进行临床检验和神经影像学检查,并进行基因目标区域捕获和高通量测序。 结果 靶区捕获测序发现,在SYNE1基因的67号外显子的10 887位点(c. 10887dupT)和41号外显子的5 995位点( c.5995A>T,p.K1999 X )存在复合杂合突变。桑格测序的结果也在患者的父母中得到了确认。 结论 在SYNE1中发现了两个新的复合杂合突变,这是我国首次报道的具有SYNE1基因突变的ARCA1患者。
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