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 journalArticle

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 languageEnglish (US)
Pages (from-to)158-161
Number of pages4
JournalChinese Journal of Medical Genetics
Volume27
Issue number2
DOIs
StatePublished - Apr 10 2010
Externally publishedYes

Fingerprint

Gene Dosage
Exons
Phosphotransferases
Genes
Parkinsonian Disorders
Real-Time Polymerase Chain Reaction

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Establishment and application of an analytical method for PINK1 gene exon copy number. / Zhang, Hainan; Liao, Bing; Nie, Li Luo; Guo, Ji Feng; Wang, Chun Yu; Zhang, Xue Wei; Yan, Xin Xiang; Tang, Bei Sha.

In: Chinese Journal of Medical Genetics, Vol. 27, No. 2, 10.04.2010, p. 158-161.

Research output: Contribution to journalArticle

Zhang, H, Liao, B, Nie, LL, Guo, JF, Wang, CY, Zhang, XW, Yan, XX & Tang, BS 2010, 'Establishment and application of an analytical method for PINK1 gene exon copy number', Chinese Journal of Medical Genetics, vol. 27, no. 2, pp. 158-161. https://doi.org/10.3760/cma.j.issn.1003-9406.2010.02.009
Zhang, Hainan ; Liao, Bing ; Nie, Li Luo ; Guo, Ji Feng ; Wang, Chun Yu ; Zhang, Xue Wei ; Yan, Xin Xiang ; Tang, Bei Sha. / Establishment and application of an analytical method for PINK1 gene exon copy number. In: Chinese Journal of Medical Genetics. 2010 ; Vol. 27, No. 2. pp. 158-161.
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AU - Zhang, Xue Wei

AU - Yan, Xin Xiang

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