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) 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.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Ji-Feng
JF
Kang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Yang
Y
Luo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.|State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Bei-Sha
BS
Tang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Chang-Min
CM
Wan
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Yang
Y
Yang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Kai
K
Li
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Zhen-Hua
ZH
Liu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Qi-Ying
QY
Sun
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Qian
Q
Xu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Xin-Xiang
XX
Yan
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.|State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China.|Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Ji-Feng
JF
Guo
D000328:Adult; D000368:Aged; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000208:ethnology / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000235:genetics*
C547812:Rab39B protein, human; D020691:rab GTP-Binding Proteins
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