| Literature DB >> 20552677 |
Xiaohua Dai1, Yong Gao, Zhenping Xu, Xiaoniu Cui, Juan Liu, Yulei Li, Haibo Xu, Mugen Liu, Qing K Wang, Jing Yu Liu.
Abstract
Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disorder that is characterized by basal ganglia and extrabasal ganglia calcification, and usually inherited in an autosomal dominant pattern. To date, two genetic loci for IBGC were identified on chromosomes 14q and 2q, but further genetic heterogeneity clearly exists. In this study, a large Chinese family with autosomal dominant IBGC was characterized. Linkage analysis excluded the 14q13 and 2q37 loci. The large family was then characterized by genome-wide linkage analysis to identify a novel genetic locus for IBGC. Significant linkage was identified with markers on chromosome 8p21.1-q11.23 with a maximum LOD score of 4.10. Fine mapping defined the new genetic locus within a 25 Mb region between markers D8S1809 and D8S1833. Future studies of the candidate genes at the 8p21.1-q11.23 locus may lead to identification of a disease-causing gene with IBGC.Entities:
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Year: 2010 PMID： 20552677 DOI： 10.1002/ajmg.b.31102
Source DB: PubMed Journal: Am J Med Genet B Neuropsychiatr Genet ISSN： 1552-4841 Impact factor: 3.568