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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); Aisa, HA
2016
发表期刊SCIENTIFIC REPORTS
卷号6期号:2
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.
DOI10.1038/srep21384
WOS记录号WOS:000369659100001
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被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.xjipc.cas.cn/handle/365002/4350
专题资源化学研究室
通讯作者Aisa, HA
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
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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).
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