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多重PCR法分析摩洛哥患者的肌营养不良蛋白基因缺失情况

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients.

作者信息

Sbiti Aziza, El Kerch Fatiha, Sefiani Abdelaziz

出版信息

J Biomed Biotechnol. 2002;2(3):158-160. doi: 10.1155/S1110724302205069.

Abstract

Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.

摘要

杜兴氏肌营养不良症和贝克氏肌营养不良症(DMD和BMD)是由位于Xp21的肌营养不良蛋白基因缺陷导致的X连锁疾病。DMD是人类最常见的神经肌肉疾病(每3500名男性新生儿中有1例)。肌营养不良蛋白基因的缺失占DMD/BMD患者突变的65%。我们使用多重聚合酶链反应(PCR)分析了72名摩洛哥DMD/BMD患者的DNA,以筛查肌营养不良蛋白基因内的外显子缺失,并估计这些异常的频率。我们在37例病例中发现了肌营养不良蛋白基因缺失。因此,摩洛哥DMD/BMD患者中的频率约为51.3%。所有缺失都集中在两个已知的热点区域,81%的病例在外显子43至外显子52区域检测到缺失。这些发现与其他研究报告的结果相当。需要注意的是,在我们的人群中,我们可以首先在本研究确定的最常缺失的外显子中搜索DMD基因的缺失。这可能有助于我国DMD和BMD的分子诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b66c/161366/83f7f5fccb93/20506.fig.001.jpg

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