A genetic cluster of early onset Parkinson's disease in a Colombian population

作者：Pineda Trujillo Nicolas; Apergi Maria; Moreno Sonia; Arias William; Lesage Suzanne; Franco Alejandro; Sepulveda Falla Diefo; Cano David; Buritica Omar; Pineda David; Uribe Carlos Santiago; Garcia de Yebenes Justo; Lees Andrew J; Brice Alexis; Bedoya Gabriel; Lopera Francisco; Ruiz Linares Andres^*

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2006, 141B(8): 885-889.

DOI：10.1002/ajmg.b.30375

• Parkinson
• founder effect
• population isolate
• parkin

We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago).

• 出版日期2006-12-5