Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.
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.
Dai
Xiaohua
X
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
Gao
Yong
Y
Xu
Zhenping
Z
Cui
Xiaoniu
X
Liu
Juan
J
Li
Yulei
Y
Xu
Haibo
H
Liu
Mugen
M
Wang
Qing K
QK
Liu
Jing Yu
JY
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D001479:Basal Ganglia / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology / Q000235:genetics*; D002648:Child; D002898:Chromosomes, Human, Pair 8; D005190:Family; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000209:etiology / Q000235:genetics*; D055815:Young Adult