Stangler Herodez Spela, Zagradisnik B, Erjavec Skerget A, Zagorac A, Kokalj Vokac N
Laboratory of Medical Genetics, University Clinical Centre Maribor, Maribor, Slovenia.
J Int Med Res. 2009 Sep-Oct;37(5):1626-31. doi: 10.1177/147323000903700542.
Several techniques can be used to diagnose Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuro pathy 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.
有几种技术可用于诊断1A型夏科-马里-图斯病（CMT1A）和易患压迫性麻痹的遗传性神经病（HNPP），但没有一种技术能将简单性与高灵敏度结合起来。应用多重连接依赖性探针扩增（MLPA）技术开发了一种高效、灵敏的检测方法，用于检测外周髓鞘蛋白22（PMP22）基因的重复/缺失。研究样本包括70名先证者，他们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，这两种方法均能检测到大多数重复患者中独特存在的一个重组片段。使用MLPA在70名先证者中共检测到9个重复和19个缺失，且MLPA与FISH之间的一致性为100%。RFLP-PCR分析漏检了一个重复，这与该方法较低的灵敏度相符。结论是，MLPA能够准确检测PMP22基因的重复/缺失，可用于这两种神经病的分子诊断。
