A Microdeletion of D6S305 in a Family of Autosomal Recessive Juvenile Parkinsonism (PARK2)

• Published in: Genomics (San Diego, Calif.) Vol. 49; no. 1; pp. 143 - 146
• Main Authors: Matsumine, Hiroto, Yamamura, Yasuhiro, Hattori, Nobutaka, Kobayashi, Tomonori, Kitada, Tohru, Yoritaka, Asako, Mizuno, Yoshikuni
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.1998
• Subjects: Chromosome Deletion; Chromosomes, Human, Pair 6; Female; Genes, Recessive; Humans; Male; Parkinson Disease - genetics; Pedigree
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1997.5196

A gene for autosomal recessive juvenile parkisonism (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.