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首页> 外文期刊>American journal of medical genetics, Part A >Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.
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Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.

机译：对包括脂肪量和肥胖症相关基因（FTO）在内的16q部分三体症患者的研究：精细定位和FTO基因表达研究。

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摘要

A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this article, we describe a more detailed analysis of the genetic anomaly in this patient. We were particularly interested in the involvement of the fat mass and obesity associated gene (FTO) in her duplication. Single nucleotide polymorphisms in FTO have been associated with obesity. The breakpoints of the duplication were precisely mapped using high-resolution oligonucleotide array comparative genomic hybridization (CGH). We found that the duplication spans 11.45 Mb on 16q11.2 to 16q13 and it includes FTO. The increased copy number of FTO was confirmed with a qPCR on genomic DNA of the patient. We investigated the influence of the increased FTO copy number on FTO gene expression in immortalized lymphocytes from the patient using qPCR. No evidence of increased FTO expression was detected in the patient's lymphocytes. We discuss these findings and we review clinical findings in patients with overlapping 16q duplications to determine the relationship between increased FTO copy number and obesity. Our review suggests that duplication of the FTO gene does not necessarily result in obesity.
机译：先前描述了一位女性，患有部分三体性16q。她的临床特征包括肥胖症，严重的异性恋，中度至重度智力低下，注意缺陷多动障碍，畸形相和小关节收缩。在本文中，我们描述了该患者遗传异常的更详细分析。我们对脂肪量和肥胖相关基因（FTO）参与她的复制特别感兴趣。 FTO中的单核苷酸多态性与肥胖有关。使用高分辨率的寡核苷酸阵列比较基因组杂交（CGH）精确定位复制的断点。我们发现复制在16q11.2到16q13上跨度为11.45 Mb，其中包括FTO。通过对患者基因组DNA的qPCR证实了FTO的拷贝数增加。我们使用qPCR研究了增加的FTO拷贝数对永生淋巴细胞中FTO基因表达的影响。在患者的淋巴细胞中未检测到FTO表达增加的证据。我们讨论这些发现，并审查重叠16q重复患者的临床发现，以确定FTO拷贝数增加与肥胖之间的关系。我们的评论表明，FTO基因的重复并不一定会导致肥胖。

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