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RAB39B gene mutations are not linked to familial Parkinson’s disease in China

Recently, RAB39B mutations were reported to be a causative factor in patients with Parkinson’s disease (PD). To validate the role of RAB39B in familial PD, a total of 195 subjects consisting of 108 PD families with autosomal-dominant (AD) inheritance and 87 PD families with autosomal-recessive (AR)...

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Autores principales: Kang, Ji-feng, Luo, Yang, Tang, Bei-sha, Wan, Chang-min, Yang, Yang, Li, Kai, Liu, Zhen-hua, Sun, Qi-ying, Xu, Qian, Yan, Xin-xiang, Guo, Ji-feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046083/
https://www.ncbi.nlm.nih.gov/pubmed/27694831
http://dx.doi.org/10.1038/srep34502
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author Kang, Ji-feng
Luo, Yang
Tang, Bei-sha
Wan, Chang-min
Yang, Yang
Li, Kai
Liu, Zhen-hua
Sun, Qi-ying
Xu, Qian
Yan, Xin-xiang
Guo, Ji-feng
author_facet Kang, Ji-feng
Luo, Yang
Tang, Bei-sha
Wan, Chang-min
Yang, Yang
Li, Kai
Liu, Zhen-hua
Sun, Qi-ying
Xu, Qian
Yan, Xin-xiang
Guo, Ji-feng
author_sort Kang, Ji-feng
collection PubMed
description Recently, RAB39B mutations were reported to be a causative factor in patients with Parkinson’s disease (PD). To validate the role of RAB39B in familial PD, a total of 195 subjects consisting of 108 PD families with autosomal-dominant (AD) inheritance and 87 PD families with autosomal-recessive (AR) inheritance in the Chinese Han population from mainland China were included in this study. We did not identify any variants in the coding region or the exon-intron boundaries of the gene by Sanger sequencing method in the DNA samples of 180 patients (100 with AD and 80 with AR). Furthermore, we did not find any variants in the RAB39B gene when Whole-exome sequencing (WES) was applied to DNA samples from 15 patients (8 with AD and 7 with AR) for further genetic analysis. Additionally, when quantitative real-time PCR was used to exclude large rearrangement variants in these patients, we found no dosage mutations in RAB39B gene. Our results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population.
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spelling pubmed-50460832016-10-11 RAB39B gene mutations are not linked to familial Parkinson’s disease in China Kang, Ji-feng Luo, Yang Tang, Bei-sha Wan, Chang-min Yang, Yang Li, Kai Liu, Zhen-hua Sun, Qi-ying Xu, Qian Yan, Xin-xiang Guo, Ji-feng Sci Rep Article Recently, RAB39B mutations were reported to be a causative factor in patients with Parkinson’s disease (PD). To validate the role of RAB39B in familial PD, a total of 195 subjects consisting of 108 PD families with autosomal-dominant (AD) inheritance and 87 PD families with autosomal-recessive (AR) inheritance in the Chinese Han population from mainland China were included in this study. We did not identify any variants in the coding region or the exon-intron boundaries of the gene by Sanger sequencing method in the DNA samples of 180 patients (100 with AD and 80 with AR). Furthermore, we did not find any variants in the RAB39B gene when Whole-exome sequencing (WES) was applied to DNA samples from 15 patients (8 with AD and 7 with AR) for further genetic analysis. Additionally, when quantitative real-time PCR was used to exclude large rearrangement variants in these patients, we found no dosage mutations in RAB39B gene. Our results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population. Nature Publishing Group 2016-10-03 /pmc/articles/PMC5046083/ /pubmed/27694831 http://dx.doi.org/10.1038/srep34502 Text en Copyright © 2016, The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Kang, Ji-feng
Luo, Yang
Tang, Bei-sha
Wan, Chang-min
Yang, Yang
Li, Kai
Liu, Zhen-hua
Sun, Qi-ying
Xu, Qian
Yan, Xin-xiang
Guo, Ji-feng
RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title_full RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title_fullStr RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title_full_unstemmed RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title_short RAB39B gene mutations are not linked to familial Parkinson’s disease in China
title_sort rab39b gene mutations are not linked to familial parkinson’s disease in china
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046083/
https://www.ncbi.nlm.nih.gov/pubmed/27694831
http://dx.doi.org/10.1038/srep34502
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