与遗传性神经病变相关的DNA删除,易患压力
P F Chance1, M K Alderson, K A Leppig
1Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132.
Cell
|January 15, 1993
概括
具有承受压力 (HNPP) 的遗传性神经病变与染色体17p11.2缺失有关. 影响PMP-22基因的这种删除表明,其表达不足导致HNPP,一种外围神经疾病.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 遗传性神经病变与承担责任的压力 (HNPP) 是一个自体主导的条件.
- 在轻微的外周神经创伤后,HNPP表现为焦点脱髓神经病变发作.
研究的目的:
- 为了绘制HNPP的遗传位点.
- 为了识别HNPP背后的分子机制.
主要方法:
- 基因链接分析来分配HNPP的位置.
- 分子研究以表征受影响血统中的删除.
- 将HNPP删除断点与CMT1A重复断点进行比较.
主要成果:
- 该HNPP位点被分配到染色体17p11.2.2.
- 在三种无关的HNPP血统中,在17p11.2发现了大量的间歇性删除.
- 删除包括外围髓蛋白22 (PMP-22) 基因,这表明PMP-22表达不足是原因.
- 该HNPP删除跨度约为1.5 Mb,并与Charcot-Marie-Tooth神经病症1A型 (CMT1A) 重复共享断点.
结论:
- HNPP与包含PMP-22基因的17p11.2删除有关.
- PMP-22的低表达与HNPP的病变发生有关.
- HNPP和CMT1A可能来自17p11.2.2.的相互不平等交叉事件.
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