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.
Matsumine
H
H
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Yamamura
Y
Y
Hattori
N
N
Kobayashi
T
T
Kitada
T
T
Yoritaka
A
A
Mizuno
Y
Y
D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree