Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson%26apos;s Disease

作者：Chu Min Kyung; Kim Won Chan; Choi Jung Mi; Hong Jeong Hoon; Kang Suk Yun; Ma Hyeo Il; Kim Yun Joong^*

来源：Journal of Clinical Neurology, 2014, 10(3): 244-248.

DOI：10.3988/jcn.2014.10.3.244

• Parkinson%26apos
• s disease
• PARK2
• gene-dosage change
• risk factor

Background. and Purpose There is some controversy regarding heterozygous mutations of the gene encoding parkin (PARK2) as risk factors for Parkinson%26apos;s disease (PD), and all previous studies have been performed in non-Asian populations. Dosage Mutation of PARK2, rather that a point mutation or small insertion/deletion mutation, Was reported to be a risk factor for familial PD; dosage mutation of PARK2 is common in Asian populations. %26lt;br%26gt;Methods We performed a. gene-dosage analysis of PARK2 using real-time polymerase chain reaction for 189 patients With early-onset PD or familial PP, 00,191 control individuals. In the case of PD patients With heterozygous gene-dosage mutation, we:performed a sequencing analysis to exclude compound heterozygous mutations. The association between heterozygous mutation of PARK2 and PD was tested. %26lt;br%26gt;Results We identified 4 PD) patients with PARK2 mutations (11.6%). Five patients (2.6%) had compound heterozygous mutations, and 13 patients (6.9%) had a heterozygous mutation. The phase could not be determined in one patient. Three small sequence variations were found in 30 mutated alleles (10.0%). Gene-dosage mutation aceounted for 90% of all of the mutations found. The frequency of a heterozygous PARK2 gene-dosage mutation was higher in PD patients than in the controls. %26lt;br%26gt;Conclusions Heterozygous gene-dosage mutation of PARK2 is a genetic risk factor for patients with early-onset or familial PD in Koreans.

• 出版日期2014-7