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对印度精神分裂症患者群体中15q11.2拷贝数变异的分析。

Analysis of 15q11.2 CNVs in an Indian population with schizophrenia.

作者信息

Saxena Sonal, Kkani Poornima, Ramasubramanian Chellamuthu, Kumar Srinivasan Ganesh, Monisha Raghav, Prasad Rao Gundugurti, Mohan Kommu Naga

机构信息

Department of Biological Sciences, BITS Pilani, Hyderabad Campus, Hyderabad, 500078, India.

Department Zoology, Thiagarajar College, Madurai, 625009, India.

出版信息

Ann Hum Genet. 2019 May;83(3):187-191. doi: 10.1111/ahg.12300. Epub 2019 Feb 19.

Abstract

Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11.2 CNV studies on Indian patients, we began by testing 307 SZ patients and 359 age- and sex-matched controls from South India. Using an improved multiplex ligation probe amplification, six deletions were found in patients and three in controls (p = 0.31), whereas one duplication was found in patients and three in controls (p = 0.63). Analysis of families of two patients and two controls with deletions indicated that the mutations were de novo. In conclusion, there seems to be no significant difference in the frequencies of 15q11.2 CNVs among the controls and patients studied here. Future studies involving a larger number of controls and patients are expected to provide better clarity on the relationship between 15q11.2 CNVs and SZ patients from India.

摘要

15q11.2的拷贝数变异(CNV)在其与精神分裂症(SZ)的关联方面产生了相互矛盾的报告,这表明需要进行复制研究。由于尚未对印度患者进行15q11.2 CNV研究,我们首先对来自印度南部的307例SZ患者和359例年龄及性别匹配的对照进行了检测。使用改进的多重连接探针扩增技术,在患者中发现了6个缺失,在对照中发现了3个缺失(p = 0.31),而在患者中发现了1个重复,在对照中发现了3个重复(p = 0.63)。对两名有缺失的患者和两名有缺失的对照的家系分析表明,这些突变是新发的。总之,在此研究的对照和患者中,15q11.2 CNV的频率似乎没有显著差异。预计未来涉及更多对照和患者的研究将更清楚地阐明15q11.2 CNV与印度SZ患者之间的关系。

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