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Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups

BACKGROUND: It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients. Uygur and Han PD patients in the Xinjiang area were recruited as research subjects to study the di...

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Autores principales: Li, Guihua, Zhang, Zhenzhong, Xia, Huan, Yang, Xinling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301217/
https://www.ncbi.nlm.nih.gov/pubmed/25374329
http://dx.doi.org/10.12659/MSM.892821
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author Li, Guihua
Zhang, Zhenzhong
Xia, Huan
Yang, Xinling
author_facet Li, Guihua
Zhang, Zhenzhong
Xia, Huan
Yang, Xinling
author_sort Li, Guihua
collection PubMed
description BACKGROUND: It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients. Uygur and Han PD patients in the Xinjiang area were recruited as research subjects to study the differences in the Thr12Met and Ala1144Thr loci mutations of the ATP13A2 gene in these PD populations. This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson’s disease patients in the Uygur and Han populations in the Xinjiang province. MATERIAL/METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in a case-control study of 200 age- and sex- matched Uygur and Han PD patients. RESULTS: Of the 200 PD patients were studied, 2 from the Han group had a Thr12Met mutation, but Ala1144Thr mutations were not found. Among the Uygur PD patients, no Thr12Met or Ala1144Thr mutations were found. CONCLUSIONS: Thr12Met and Ala1144Thr mutations of the ATP13A2 gene are rare in the Uygur PD patients in Xinjiang. Overall, the mutation rates of Thr12Met and Ala1144Thr in the Uygur and Han PD patients in the Xinjiang region are low.
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spelling pubmed-43012172015-01-22 Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups Li, Guihua Zhang, Zhenzhong Xia, Huan Yang, Xinling Med Sci Monit Clinical Research BACKGROUND: It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients. Uygur and Han PD patients in the Xinjiang area were recruited as research subjects to study the differences in the Thr12Met and Ala1144Thr loci mutations of the ATP13A2 gene in these PD populations. This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson’s disease patients in the Uygur and Han populations in the Xinjiang province. MATERIAL/METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in a case-control study of 200 age- and sex- matched Uygur and Han PD patients. RESULTS: Of the 200 PD patients were studied, 2 from the Han group had a Thr12Met mutation, but Ala1144Thr mutations were not found. Among the Uygur PD patients, no Thr12Met or Ala1144Thr mutations were found. CONCLUSIONS: Thr12Met and Ala1144Thr mutations of the ATP13A2 gene are rare in the Uygur PD patients in Xinjiang. Overall, the mutation rates of Thr12Met and Ala1144Thr in the Uygur and Han PD patients in the Xinjiang region are low. International Scientific Literature, Inc. 2014-11-06 /pmc/articles/PMC4301217/ /pubmed/25374329 http://dx.doi.org/10.12659/MSM.892821 Text en © Med Sci Monit, 2014 This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License
spellingShingle Clinical Research
Li, Guihua
Zhang, Zhenzhong
Xia, Huan
Yang, Xinling
Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title_full Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title_fullStr Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title_full_unstemmed Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title_short Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
title_sort analysis of thr12met and ala1144thr mutations of the atp13a2 gene in parkinson’s disease patients in xinjiang uygur and han ethnic groups
topic Clinical Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301217/
https://www.ncbi.nlm.nih.gov/pubmed/25374329
http://dx.doi.org/10.12659/MSM.892821
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