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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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

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.[1]

References

  1. A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2). Matsumine, H., Yamamura, Y., Hattori, N., Kobayashi, T., Kitada, T., Yoritaka, A., Mizuno, Y. Genomics (1998) [Pubmed]
 
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