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Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-ind...

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Autores principales: Xu, Changshui, Xu, Jun, Zhang, Yanmin, Ma, Jianjun, Kawakami, Hideshi, Maruyama, Hirofumi, Kamada, Masaki
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003980/
https://www.ncbi.nlm.nih.gov/pubmed/21188226
http://dx.doi.org/10.1155/2010/674740
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author Xu, Changshui
Xu, Jun
Zhang, Yanmin
Ma, Jianjun
Kawakami, Hideshi
Maruyama, Hirofumi
Kamada, Masaki
author_facet Xu, Changshui
Xu, Jun
Zhang, Yanmin
Ma, Jianjun
Kawakami, Hideshi
Maruyama, Hirofumi
Kamada, Masaki
author_sort Xu, Changshui
collection PubMed
description Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.
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spelling pubmed-30039802010-12-23 Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease Xu, Changshui Xu, Jun Zhang, Yanmin Ma, Jianjun Kawakami, Hideshi Maruyama, Hirofumi Kamada, Masaki Neurol Res Int Research Article Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China. Hindawi Publishing Corporation 2010 2010-08-23 /pmc/articles/PMC3003980/ /pubmed/21188226 http://dx.doi.org/10.1155/2010/674740 Text en Copyright © 2010 Changshui Xu et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Xu, Changshui
Xu, Jun
Zhang, Yanmin
Ma, Jianjun
Kawakami, Hideshi
Maruyama, Hirofumi
Kamada, Masaki
Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title_full Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title_fullStr Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title_full_unstemmed Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title_short Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
title_sort analysis on the susceptibility genes in two chinese pedigrees with familial parkinson's disease
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003980/
https://www.ncbi.nlm.nih.gov/pubmed/21188226
http://dx.doi.org/10.1155/2010/674740
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