人类线粒体柠檬酸转运体基因（SLC20A3）定位于22q11染色体带，该区域与迪格奥尔格综合征、心脏颜面综合征和精神分裂症有关。
The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia.
作者信息
Stoffel M, Karayiorgou M, Espinosa R, Beau M M
机构信息
Laboratory of Metabolic Diseases, Rockefeller University, New York, NY 10021, USA.
出版信息
Hum Genet. 1996 Jul;98(1):113-5. doi: 10.1007/s004390050169.
The gene encoding the human mitochondrial citrate transporter designated SLC20A3 was mapped to chromosome 22 by analyzing its segregation in a panel of human-hamster somatic cell hybrids. This assignment was confirmed by fluorescence in situ hybridization to metaphase chromosomes, and the gene was further localized to band 22q11.21. The gene is located in a critical region associated with allelic losses in a variety of clinical syndromes, including DiGeorge syndrome, velo-cardio-facial syndrome and a subtype of schizophrenia.
通过分析人类-仓鼠体细胞杂交细胞系中的分离情况，将编码人类线粒体柠檬酸转运蛋白（命名为SLC20A3）的基因定位到了22号染色体上。通过对中期染色体进行荧光原位杂交，证实了这一定位，并且该基因进一步定位于22q11.21带。该基因位于与多种临床综合征（包括DiGeorge综合征、心脏-面部综合征和精神分裂症的一个亚型）中的等位基因缺失相关的关键区域。
Zotero 插件