血缘关系
外显率
帕金森病
常染色体隐性遗传
先证者
突变
作者
Hiroto Matsumine,Yasuhiro Yamamura,Nobutaka Hattori,Tomonori Kobayashi,Tohru Kitada,Asako Yoritaka,Yoshikuni Mizuno
出处
期刊:Genomics
[Elsevier]
日期:1998-04-01
卷期号:49 (1): 143-146
被引量:43
标识
DOI:10.1006/geno.1997.5196
摘要
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.
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