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

Authors: Matsumine H.¹; Yamamura Y.²; Hattori N.¹; Kobayashi T.¹; Kitada T.¹; Yoritaka A.¹; Mizuno Y.¹

Source: Genomics, Volume 49, Number 1, April 1998 , pp. 143-146(4)

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Abstract:

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. Copyright 1998 Academic Press.

Language: English

Document Type: Short communication

Affiliations: 1: Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo, 113, Japan 2: Institute of Health Science, Hiroshima University School of Medicine, Hiroshima, Japan

Publication date: 1998-04-01