Identification of a Novel Genetic Locus on Chromosome 8p21.1-q11.23 for Idiopathic Basal Ganglia Calcification
Identification of a Novel Genetic Locus on Chromosome 8p21.1-q11.23 for Idiopathic Basal Ganglia Calcification
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DOI：
10.1002/ajmg.b.31102
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发表时间：
2010-10-01
影响因子：
2.8
通讯作者：
Liu, Jing Yu
中科院分区：
文献类型：
--
作者：
Dai, Xiaohua;Gao, Yong;Liu, Jing Yu
特发性基底节钙化（IBGC）是一种以基底节和基底节外钙化为特征的神经退行性疾病，通常以常染色体显性遗传模式遗传。迄今为止，在染色体14 q和2 q上发现了IBGC的两个遗传位点，但进一步的遗传异质性显然存在。本研究报道了一个常染色体显性遗传IBGC家系。连锁分析排除了14 q13和2 q37位点。然后通过全基因组连锁分析来鉴定IBGC的一个新的遗传位点。与染色体8p21.1-q11.23上的标记鉴定出显著连锁，最大LOD评分为4.10。精细定位在标记D8 S1809和D8 S1833之间的25 Mb区域内定义了新的遗传位点。对8p21.1-q11.23位点候选基因的进一步研究可能导致IBGC致病基因的鉴定。(c)2010 Wiley-Liss，Inc.
Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disorder that is characterized by basal ganglia and extra-basal 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. (c) 2010 Wiley-Liss, Inc.