A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2)

Genomics. 1998 Apr 1;49(1):143-6. doi: 10.1006/geno.1997.5196.

Abstract

A gene for autosomal recessive juvenile parkinsonism (ARJP; HGMW-approved symbol PARK2; MIM 600116) has recently been mapped to a 17-cM interval on chromosome 6q25.2-q27. We here report an inbred family with ARJP showing a perfect cosegregation with null allele for D6S305, which is a marker within the ARJP locus. We assigned the deletion within an interval between D6S1937 and AFMa155td9, which are 0 cM apart from each other and located on a single YAC clone. Two possibilities should be evaluated: (1) the deletion is polymorphic and linked to ARJP and (2) the deletion is pathogenic and contains both D6S305 and the ARJP gene (or a part of it). An exon search in a deleted segment or in the relatively small-sized genomic clones harboring D6S305 may enormously facilitate the cloning procedure of the ARJP gene.

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Parkinson Disease / genetics*
  • Pedigree