A MICRODELETION OF D6S305 IN A FAMILY OF AUTOSOMAL RECESSIVE JUVENILEPARKINSONISM (PARK2)

A gene for autosomal recessive juvenile parkisonism (ARJP; HGMW-approv ed symbol PARK2; MIM 600116) has recently been mapped to a 17-cM inter val on chromosome 6q25.2-q27. We here report an inbred family with ARJ P showing a perfect cosegregation with null allele for D6S305, which i s a marker within the ARJP locus. We assigned the deletion within an i nterval 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 relat ively small-sized genomic clones harboring D6S305 may enormously facil itate the cloning procedure of the ARJP gene. (C) 1998 Academic Press.