Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification

Alexandre Serra; Heike Görgens; Karin Alhadad; Guido Fitze; Hans K. Schackert

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Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification

机译：多重连接依赖探针扩增技术分析中枢先天性高换气综合征患者的RET，ZEB2，EDN3和GDNF基因组重排

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SummaryCentral congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO₂, and low PaO₂ during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic diseases such as Hirschsprung disease (HSCR). Since genomic rearrangements in particularly sensitive areas of the RET protooncogene and/or associated genes may account for the CCHS/HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in CCHS/HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA). We have screened 27 CCHS and 11 CCHS/HSCR patients for genomic rearrangements in RET, ZEB2, EDN3 and GDNF and did not identify any deletion or amplification in these four genes in all patients. We conclude that genomic rearrangements in RET are rare and were not responsible for the CCHS/HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether given the size of the cohort.

机译：总结中枢先天性通气不足综合征（CCHS）是一种自主控制疾病，在安静的睡眠过程中会产生通气不足，高PaCO _{2 和低PaO _{2 。在CCHS中检测到的主要基因变异是高达97％的分离病例中PHOX2b基因的突变。但是，CCHS有时与自主神经疾病（例如，大隐身病（HSCR））有关。由于RET原癌基因和/或相关基因特别敏感区域的基因组重排可能是没有其他可检测到的RET变异的患者的CCHS / HSCR表型的原因，因此本研究的目的在于确定RET编码序列中的重排如CCHS / HSCR患者中的三个HSCR相关基因（ZEB2，EDN3和GDNF）一样，使用多重连接依赖性探针扩增（MLPA）技术。我们筛选了27位CCHS和11位CCHS / HSCR患者的RET，ZEB2，EDN3和GDNF基因组重排，但并未在所有患者中发现这4个基因的任何缺失或扩增。我们得出的结论是，在我们的患者组中，没有可识别的种系RET变异的个体，RET中的基因组重排很少，并且不负责CCHS / HSCR表型，但是鉴于这一队列的规模，不能完全排除这种可能性。}}

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《Annals of Human Genetics》 |2010年第4期|p.369-374|共6页
作者
Alexandre Serra; Heike Görgens; Karin Alhadad; Guido Fitze; Hans K. Schackert;
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Department of Surgery (Section Pediatric Surgery), University of Ulm, Ulm, Germany;

|Department of Surgical Research, University of Dresden, Dresden, Germany;

|Department of Surgical Research, University of Dresden, Dresden, Germany;

Department of Pediatric Surgery, University of Dresden, Dresden, Germany;

Department of Surgical Research, University of Dresden, Dresden, Germany;

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Central congenital hyperventilation syndrome; genomic rearrangements; RET protooncogene; multiplex ligation-dependent probe amplification;

机译：中枢先天性过度换气综合征;基因组重排;RET原癌基因;多重连接依赖性探针扩增;

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1. Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification [J] . Alexandre Serra, Heike G6rgens, Karin Alhadad, Annals of Human Genetics . 2010,第4期

机译：多重连接依赖探针扩增法分析中枢先天性高换气综合征患者的RET，ZEB2，EDN3和GDNF基因组重排
2. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification). [J] . Serra A, Gorgens H, Alhadad K Annals of Human Genetics . 2009,第2期

机译：分析80例Hirschsprung病患者的RET，ZEB2，EDN3和GDNF基因组重排（使用多重连接依赖性探针扩增）。
3. Genomic large rearrangement screening of BRCA1 and BRCA2 genes in high-risk Turkish breast/ovarian cancer patients by using multiplex ligation-dependent probe amplification assay. [J] . Manguoglu E, Guran S, Yamac D, Cancer investigation . 2011,第1期

机译：使用多重连接依赖探针扩增测定法对高危土耳其乳腺癌/卵巢癌患者中BRCA1和BRCA2基因进行基因组大重排筛选。
4. DYE-FREE DETECTION OF MULTIPLE GENE EXPRESSION BY SEQUENCE-TAGGED MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION COUPLED WITH PYROSEQUENCING FOR DIAGNOSIS OF COLORECTAL CANCER [C] . Huang Huan, Qi Zongtai, Deng Lili, The 6'th International Forum on Post-genome Technologies(6'IFPT)（第六届国际后基因组生命科学技术学术论坛） . 2009

机译：测序标记的依赖于多联结的探针扩增与热测序联用的无染料检测多基因表达，用于大肠癌的诊断
5. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [O] . Carla S D’Angelo, Monica C Varela, Cláudia IE de Castro, 2014

机译：通过使用合成探针的多重连接依赖性探针扩增研究338例有综合征肥胖的患者队列中选定的基因组缺失和重复
6. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [O] . DAngelo Carla S., Varela Monica C., Castro Claudia I. E. de, 2014

机译：通过使用合成探针的多重连接依赖性探针扩增研究338例有综合征肥胖的患者队列中选定的基因组缺失和重复

Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification

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