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The LRRK2 Gene Is Mutated in a Chinese Autosomal-Dominant Parkinson"s Disease Family 期刊论文

编号：

f47d0bcf-6f99-479d-875b-0a6b1c28d1d2
作者：

Guo, Rui#^[1]Hu, Xinyu^[2];Chen, Qiuhui^[1];Zhang, Ying^[1];Zhang, Yizhi^[1];Sun, Yajuan^[1];Hu, Guohua*^[1]
语种：

英文
期刊：

GENETIC TESTING AND MOLECULAR BIOMARKERS ISSN：1945-0265 2013 年 17 卷 2 期 (131 - 134) ; FEB
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摘要：

The mutation of the leucine-rich repeat kinase2 gene (LRRK2) is the most commonly detected genetic determinant of Parkinson"s disease (PD). However, the specific role of the LRRK2 mutation in the occurrence of the autosomal-dominant family PD remains to be elucidated. In this study, we report a large Chinese LRRK2-related PD family with 33 members of four generations. Genomic DNA was isolated from peripheral blood specimens of 11 family members. The common LRRK2 mutations were screened by polymerase chain reaction, followed by polymorphic restriction enzyme digestion or direct DNA sequencing. We detected the G2385R mutation, a substitution at codon 2385 to produce a glycine-to-arginine phenotype, in two affected cases and one suspected case. Our data support the concept that the LRRK2 G2385R mutation may be involved in the pathogenesis of PD in this family.
推荐引用方式
GB/T 7714：

Guo Rui,Hu Xinyu,Chen Qiuhui, et al. The LRRK2 Gene Is Mutated in a Chinese Autosomal-Dominant Parkinson"s Disease Family [J].GENETIC TESTING AND MOLECULAR BIOMARKERS,2013,17(2):131-134.
APA：

Guo Rui,Hu Xinyu,Chen Qiuhui,Zhang Ying,&Hu Guohua.(2013).The LRRK2 Gene Is Mutated in a Chinese Autosomal-Dominant Parkinson"s Disease Family .GENETIC TESTING AND MOLECULAR BIOMARKERS,17(2):131-134.
MLA：

Guo Rui, et al. "The LRRK2 Gene Is Mutated in a Chinese Autosomal-Dominant Parkinson"s Disease Family" .GENETIC TESTING AND MOLECULAR BIOMARKERS 17,2(2013):131-134.
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