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The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson’s disease. The detection of mutations in the PARK2 gene remains low. To investigate the role PARK2 gene mutations play in the pathogenesis of Parkinson’s disease, 30 Han Chinese patients with early-onset Parkinson’s disease and 38 normal controls were studied to determine the sequence changes of 1, 4, 6 and 7 exon sections. In the 30 patients with Parkinson’s disease, a heterozygous intron mutation (nt 119, G→G/A) in exon 1 was detected in one case; a homozygous intron mutation (nt 526500, T→C) between intron 3 and exon 4 in fourteen cases was found; a heterozygous intron mutation (nt 526607, G→G/A) between intron 3 and exon 4 was observed in eight cases; an exon 6 missense mutation (nt 754317, C→C/T; codon 193, CGG→CGG/TGG; aa 193, Arg→Arg/Trp) in three cases was seen; and an exon 7 missense mutation (nt 941943, C→A/C; codon 272, CTC→CTC/ATC; aa 272, Leu→Leu/Ile) was found in one case. These changes were not found in the normal population. The results indicated that the PARK2 exons 6 and 7 mutations are possibly pathogenic mutations, along with the intron 3-exon 4 and exon 1 mutations. PARK2 gene mutations are possible factors leading to the onset of Parkinson’s disease.
The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson’s disease. The detection of mutations in the PARK2 gene remains low. To investigate the role of PARK2 gene mutations play in the pathogenesis of Parkinson’s disease, 30 Han Chinese patients with early-onset Parkinson’s disease and 38 normal controls were studied to determine the sequence changes of 1, 4, 6 and 7 exon sections. In the 30 patients with Parkinson’s disease, a heterozygous intron mutation (nt 119, G → G / A) in exon 1 was detected in one case; a homozygous intron mutation (nt 526500, T → C) between intron 3 and exon 4 in fourteen cases was found; a heterozygous intron mutation (nt 526607, G → G / A) between intron 3 and exon 4 was observed in eight cases; an exon 6 missense mutation (nt 754317, C → C / T; codon 193, CGG → CGG / TGG; aa 193, Arg → Arg / Trp) in three cases was seen; and an exon 7 missense mutation (nt 941943, C → A / C; codon 272, CTC → CTC / ATC; aa 272, Leu → Leu / Ile) was found in one case. The se changes were not found in the normal population. The results indicated that the PARK2 exons 6 and 7 mutations are likely pathogenic mutations, along with the intron 3-exon 4 and exon 1 mutations. PARK2 gene mutations are possible factors leading to the onset of Parkinson’s disease.