Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications deletions
Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications deletions
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DOI：
10.1007/s004390050431
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发表时间：
1997-05-01
期刊：
影响因子：
5.3
通讯作者：
Epplen, JT
中科院分区：
文献类型：
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作者：
Haupt, A;Schols, L;Epplen, JT
染色体17p11.2-12中编码外周髓鞘蛋白22(PMP-22)基因的1.5-Mb区域的DNA重复和缺失是1型夏科-玛丽-图思病(CMT1)和遗传性压力性瘫痪(HNPP)的常见突变。通过Southern印迹分析中CMT和HNPP特异的连接片段的检测，在错位的侧翼重复序列(CMT1-rep元件)中发现了1.7kb的重组热点区域。为了简化常规诊断，我们引入了一种基于聚合酶链式反应的方法来直接鉴定特定的rep连接片段。使用这项测试，在CMT复制和HNPP缺失的情况下，都检测到了类似于67%的特定片段。特定限制性内切酶识别位点的多态对于Southern印迹和连接片段的PCR分析都是至关重要的。
DNA duplications and deletions of a 1.5-Mb region in chromosome 17p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP-22) are the common mutations in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP). A 1.7-kb recombination hotspot region has been identified within misaligned flanking repeats (CMT1-REP elements) by detection of CMT- and HNPP-specific junction fragments in Southern blot analyses. In order to simplify routine diagnosis we introduce a polymerase chain reaction-based method to identify directly specific REP junction fragments. Using this test, specific fragments were detected in similar to 67% of both CMT duplication and HNPP deletion cases. Polymorphism within a specific restriction enzyme recognition site is crucial for both Southern blot and PCR analyses of junction fragments.