Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

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	Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity
	Tajiguli, A (Tajiguli, Abulikemu); Xu, MC (Xu, Mingchu); Fu, Q (Fu, Qing); Yiming, R (Yiming, Rouzimaimaiti); Wang, KQ (Wang, Keqing); Li, YM (Li, Yumei); Eblimit, A (Eblimit, Aiden); Sui, RF (Sui, Ruifang); Chen, R (Chen, Rui); Aisa, HA (Aisa, Haji Akber)
刊名	SCIENTIFIC REPORTS
	2016
卷号	6 期号:2
通讯作者	Aisa, HA
英文摘要	Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Europeans and East Asians. The genetic etiology of IRD in this specific population still remains unknown. Here, by next-generation sequencing (NGS), we screened mutations in over 200 known retinal disease genes in a cohort of 12 unrelated Uyghur IRD probands. Out of the 12 probands, six are solved with high confidence, two with low confidence, while the remaining four are unsolved. We identified known disease-causing alleles in this cohort that suggest ancient Uyghur migration and also discovered eight novel disease-associated variants. Our results showed NGS-based mutation screening as a reliable approach for molecular diagnosis. In addition, this approach can also be applied to reveal the genetic history of a specific ethnic group.
WOS记录号	WOS:000369659100001
内容类型	期刊论文
源URL	[http://ir.xjipc.cas.cn/handle/365002/4350]
专题	新疆理化技术研究所_资源化学研究室
作者单位	Chinese Acad Sci, Xinjiang Tech Inst Phys & Chem, Key Lab Plant Resources & Chem Arid Zone, Urumqi 830011, Xinjiang, Peoples R China;Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA;Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA;Fudan Univ, Dept Ophthalmol, North Huashan Hosp, Shanghai 200240, Peoples R China;Minguang Ophthalm Hosp, Dept Ophthalmol, Hotan 848000, Xinjiang, Peoples R China;Chinese Acad Med Sci, Dept Ophthalmol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing 100730, Peoples R China
推荐引用方式 GB/T 7714	Tajiguli, A ,Xu, MC ,Fu, Q ,et al. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity[J]. SCIENTIFIC REPORTS,2016,6(2).
APA	Tajiguli, A .,Xu, MC .,Fu, Q .,Yiming, R .,Wang, KQ .,...&Aisa, HA .(2016).Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.SCIENTIFIC REPORTS,6(2).
MLA	Tajiguli, A ,et al."Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity".SCIENTIFIC REPORTS 6.2(2016).