Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review.

Qunfeng Wang,Chao Zhang,Shihua Liu,Taotao Liu,Ruilong Ni,Xiaoli Liu,Ping Zhong, Qian Wu, Ting Xu, Huiyi Ke,Wotu Tian,Li Cao

Clinical neurology and neurosurgery（2022）

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摘要

We identified one SCA36 pedigree by combining TP-PCR with LRS. Our study suggested LRS as an effective tool for molecular diagnosis. LRS also worked as a supplementary but necessary diagnostic tool for dynamic mutation-related SCA on the basis of repeat-primed PCR as well as capillary electrophoresis.

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关键词

Capillary electrophoresis,Long-read Sequencing,NOP56,Spinocerebellar ataxia type 36,Tri-prime PCR

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