Establishment and application of an analytical method for PINK1 gene exon copy number

Hainan Zhang; Bing Liao; Li Luo Nie; Ji Feng Guo; Chun Yu Wang; Xue Wei Zhang; Xin Xiang Yan; Bei Sha Tang

doi:10.3760/cma.j.issn.1003-9406.2010.02.009

Establishment and application of an analytical method for PINK1 gene exon copy number

Hainan Zhang, Bing Liao, Li Luo Nie, Ji Feng Guo, Chun Yu Wang, Xue Wei Zhang, Xin Xiang Yan, Bei Sha Tang

Research output: Contribution to journal › Article › peer-review

Abstract

Objective: To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP). Methods: Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls. Results: Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group. Conclusion: An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.

Original language	English (US)
Pages (from-to)	158-161
Number of pages	4
Journal	Chinese Journal of Medical Genetics
Volume	27
Issue number	2
DOIs	https://doi.org/10.3760/cma.j.issn.1003-9406.2010.02.009
State	Published - Apr 10 2010
Externally published	Yes

Keywords

Autosomal recessive early-onset Parkinsonism
Copy-number variation
PINK1 gene
Real-time PCR

ASJC Scopus subject areas

Genetics(clinical)

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10.3760/cma.j.issn.1003-9406.2010.02.009

Cite this

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title = "Establishment and application of an analytical method for PINK1 gene exon copy number",

abstract = "Objective: To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP). Methods: Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls. Results: Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group. Conclusion: An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.",

keywords = "Autosomal recessive early-onset Parkinsonism, Copy-number variation, PINK1 gene, Real-time PCR",

author = "Hainan Zhang and Bing Liao and Nie, {Li Luo} and Guo, {Ji Feng} and Wang, {Chun Yu} and Zhang, {Xue Wei} and Yan, {Xin Xiang} and Tang, {Bei Sha}",

year = "2010",

month = apr,

day = "10",

doi = "10.3760/cma.j.issn.1003-9406.2010.02.009",

language = "English (US)",

volume = "27",

pages = "158--161",

journal = "Chinese Journal of Medical Genetics",

issn = "1003-9406",

publisher = "West China University of Medical Sciences",

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}

TY - JOUR

T1 - Establishment and application of an analytical method for PINK1 gene exon copy number

AU - Zhang, Hainan

AU - Liao, Bing

AU - Nie, Li Luo

AU - Guo, Ji Feng

AU - Wang, Chun Yu

AU - Zhang, Xue Wei

AU - Yan, Xin Xiang

AU - Tang, Bei Sha

PY - 2010/4/10

Y1 - 2010/4/10

N2 - Objective: To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP). Methods: Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls. Results: Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group. Conclusion: An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.

AB - Objective: To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP). Methods: Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls. Results: Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group. Conclusion: An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.

KW - Autosomal recessive early-onset Parkinsonism

KW - Copy-number variation

KW - PINK1 gene

KW - Real-time PCR

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U2 - 10.3760/cma.j.issn.1003-9406.2010.02.009

DO - 10.3760/cma.j.issn.1003-9406.2010.02.009

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AN - SCOPUS:77952005164

SN - 1003-9406

VL - 27

SP - 158

EP - 161

JO - Chinese Journal of Medical Genetics

JF - Chinese Journal of Medical Genetics

IS - 2

ER -

Establishment and application of an analytical method for PINK1 gene exon copy number

Abstract

Keywords

ASJC Scopus subject areas

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