Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods
Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods
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DOI：
10.1177/147323000903700542
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发表时间：
2009-09-01
影响因子：
1.6
通讯作者：
Vokac, N. Kokalj
中科院分区：
文献类型：
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作者：
Herodez, S. Stangler;Zagradisnik, B.;Vokac, N. Kokalj
有几种技术可用于诊断Churcot-Marie-Tooth病1A型（CMT 1A）和遗传性神经病与压力麻痹易感性（HNPP），但没有技术结合简单与高灵敏度。应用多重连接依赖探针扩增（MLPA）技术建立了一种检测外周髓鞘蛋白22（PMP 22）基因重复/缺失的高效、灵敏的方法。该研究样本包括70名先证者，这些先证者之前均已通过荧光原位杂交（FISH）和限制性片段长度多态性-聚合酶链反应（RFLP-PCR）分析进行了分析，这两种方法都检测到大多数重复患者中独特存在的独特重组片段。在70例先证者中，MLPA共检测到9例重复和19例缺失，两者符合率为100%。RFLP-PCR检测中漏失了一个重复，这与该方法的低灵敏度相一致。结论：MLPA可以准确检测PMP 22基因的重复/缺失，并可用于这两种神经病变的分子诊断。
Several techniques can be used to diagnose Churcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), but no technique combines simplicity with high sensitivity. Multiplex ligation-dependent probe amplification (MLPA) was applied to develop an efficient and sensitive test for the detection of duplication/deletion of the peripheral myelin protein 22 (PMP22) gene. The study sample included 70 probands that had each been previously analysed by fluorescence in situ hibridization (FISH) and the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) assay, both of which detect a unique recombination fragment uniquely present in most patients with the duplication. A total of nine duplications and 19 deletions were detected in the 70 probands using MLPA, and there was 100% concordance between MPLA and FISH. A single duplication was missed by the RFLP-PCR assay, which accords with the lower sensitivity of this method. It is concluded that the MLPA allows accurate detection of PMP22 gene duplications/deletions and could be used for the molecular diagnosis of these two neuropathies.