Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism

Xuewei Zhang, Hainan Zhang, Bing Liao, Jifeng Guo, Kun Xia, Beisha Tang

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Objective To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP). Methods DNA sequencing was used to detect point mutations and small deletions/insertions, and quantitative real-time PCR was carried out to detect deletions/insertions and rearrangements in 149 patients and 150 healthy controls. Results Four heterozygous mutations in PINK1 were identified, including 3 missense mutations (c.832C > G, c. 938C > T, c. 1 220G > A) and ex 3-8 del. A novel single nucleotide polymorphism (SNP) c. 899 + 18G > A and 14 reported SNPs were identified. Chi-square test showed that c. 189C >T and c. 960 - 5G > A had significant difference in the genotype frequencies and allele frequencies between the patients and the controls (for c. 189C > T genotype X 2 = 21. 244, P < 0.0001; T allele X 2=24. 353, P < 0.0001, and for c. 960 - 5G > A genotype's X 2 = 6. 524, P = 0.038; A allele X 2 = 6.725, P = 0.0095 ). Conclusion About 3. 35% Chinese Han patients with EOP carry mutations in PINK1. Two SNPs c. 189C > T and c. 960 - 5G > A may contribute to the risk of EOP in Chinese Han people.

Original languageEnglish (US)
Pages (from-to)490-497
Number of pages8
JournalJournal of Central South University (Medical Sciences)
Volume36
Issue number6
DOIs
StatePublished - Jun 1 2011
Externally publishedYes

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Parkinsonian Disorders
Single Nucleotide Polymorphism
Genotype
Mutation
Genes
Mutation Rate
Missense Mutation
Chi-Square Distribution
DNA Sequence Analysis
Point Mutation
Gene Frequency
Real-Time Polymerase Chain Reaction
Alleles

Keywords

  • DNA sequencing
  • Early-onset Parkinsonism
  • Mutation
  • PINK1
  • Quantitative real-time PCR

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism. / Zhang, Xuewei; Zhang, Hainan; Liao, Bing; Guo, Jifeng; Xia, Kun; Tang, Beisha.

In: Journal of Central South University (Medical Sciences), Vol. 36, No. 6, 01.06.2011, p. 490-497.

Research output: Contribution to journalArticle

Zhang, Xuewei ; Zhang, Hainan ; Liao, Bing ; Guo, Jifeng ; Xia, Kun ; Tang, Beisha. / Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism. In: Journal of Central South University (Medical Sciences). 2011 ; Vol. 36, No. 6. pp. 490-497.
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N2 - Objective To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP). Methods DNA sequencing was used to detect point mutations and small deletions/insertions, and quantitative real-time PCR was carried out to detect deletions/insertions and rearrangements in 149 patients and 150 healthy controls. Results Four heterozygous mutations in PINK1 were identified, including 3 missense mutations (c.832C > G, c. 938C > T, c. 1 220G > A) and ex 3-8 del. A novel single nucleotide polymorphism (SNP) c. 899 + 18G > A and 14 reported SNPs were identified. Chi-square test showed that c. 189C >T and c. 960 - 5G > A had significant difference in the genotype frequencies and allele frequencies between the patients and the controls (for c. 189C > T genotype X 2 = 21. 244, P < 0.0001; T allele X 2=24. 353, P < 0.0001, and for c. 960 - 5G > A genotype's X 2 = 6. 524, P = 0.038; A allele X 2 = 6.725, P = 0.0095 ). Conclusion About 3. 35% Chinese Han patients with EOP carry mutations in PINK1. Two SNPs c. 189C > T and c. 960 - 5G > A may contribute to the risk of EOP in Chinese Han people.

AB - Objective To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP). Methods DNA sequencing was used to detect point mutations and small deletions/insertions, and quantitative real-time PCR was carried out to detect deletions/insertions and rearrangements in 149 patients and 150 healthy controls. Results Four heterozygous mutations in PINK1 were identified, including 3 missense mutations (c.832C > G, c. 938C > T, c. 1 220G > A) and ex 3-8 del. A novel single nucleotide polymorphism (SNP) c. 899 + 18G > A and 14 reported SNPs were identified. Chi-square test showed that c. 189C >T and c. 960 - 5G > A had significant difference in the genotype frequencies and allele frequencies between the patients and the controls (for c. 189C > T genotype X 2 = 21. 244, P < 0.0001; T allele X 2=24. 353, P < 0.0001, and for c. 960 - 5G > A genotype's X 2 = 6. 524, P = 0.038; A allele X 2 = 6.725, P = 0.0095 ). Conclusion About 3. 35% Chinese Han patients with EOP carry mutations in PINK1. Two SNPs c. 189C > T and c. 960 - 5G > A may contribute to the risk of EOP in Chinese Han people.

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