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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)...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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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. |
format | Online Article Text |
id | pubmed-5046083 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
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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