Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region

TAN Jian-Qiang, WANG Ping, HU Qi-Ping, LI Song-Feng, SHU Wei, MA Jun, FANG Ling, HUA Rong, DING Ye, YUAN Zhi-Gang

doi:10.3724/SP.J.1005.2009.00605

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Hereditas(Beijing) >

2009 , Vol. 31 >Issue 6: 605 - 610

DOI: https://doi.org/10.3724/SP.J.1005.2009.00605

研究报告

Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region

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1. Guangxi Medical University, Nanning 530021, China;
2. Guangxi Zhuang Autonomous Region Public Security Bureau, Nanning 530000, China

Received date: 2008-11-30

Revised date: 2009-01-18

Online published: 2009-06-10

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Abstract

To characterize the distributions and subtypes of the spinocerebellar ataxias (SCA) in Guangxi region, the SCAl, SCA2, SCA3/MJD, SCA6, SCA7 and SCA12 (CAG)n mutations were analyzed by polymerase chain reaction (PCR) and capillary electrophoresis (CE). The SCA3/MJD mutation was detected in a total of 21 SCA patients and 19 presymptomatic individuals from 6 SCA families and their CAG repeat numbers were 59~70 and 60~73, respectively. No (CAG)n mutations of SCA1, SCA2, SCA6, SCA7 and SCA12 were detected. This study showed that SCA in Guangxi region is mostly SCA3/MJD subtype and the CAG repeats are smaller than those reported in other regions previously.

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TAN Jian-Qiang, WANG Ping, HU Qi-Ping, LI Song-Feng, SHU Wei, MA Jun, FANG Ling, HUA Rong, DING Ye, YUAN Zhi-Gang . Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region[J]. Hereditas(Beijing), 2009 , 31(6) : 605 -610 . DOI: 10.3724/SP.J.1005.2009.00605

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