Objective: To detect the possible relationship between PARKIN gene and the Chinese pedigree with autosomal recessive early-onset Parkinson's disease(AREP).
Methods: Clinical examination was carried out in 6 patients from 3 Chinese pedigrees with AREP and their 23 family members. PCR amplification of all exons of PARKIN gene was performed. The PCR products were analyzed by denaturing high-performance liquid chromatography(DHPLC) to screen for point mutation and polymorphism. And in the samples with abnormal DHPLC result, further sequencing was conducted to confirm the type of mutation and polymorphism.
Results: All exons of PARKIN gene from the research subjects were successfully amplified. A heterozygous point mutation (Gly284Arg) in exon 7 was found in one pedigree. A polymorphism (Ser167Asn) in exon 4 was found in another pedigree. All the patients had the past history of exposure to environmental poison.
Conclusion: When acting together with risky environmental factors, the heterozygous mutation Gly284Arg in PARKIN gene may cause AREP. The polymorphism Ser167Asn in PARKIN gene increases the risk of developing Parkinson's disease and may cause AREP when acting together with hydrargyrism.