SCHIZOPHRENIA SUSCEPTIBILITY ASSOCIATED WITH INTERSTITIAL DELETIONS OF CHROMOSOME 22Q11
SCHIZOPHRENIA SUSCEPTIBILITY ASSOCIATED WITH INTERSTITIAL DELETIONS OF CHROMOSOME 22Q11
复制标题
DOI：
10.1073/pnas.92.17.7612
复制
发表时间：
1995-08-15
影响因子：
11.1
通讯作者：
HOUSMAN, DE
中科院分区：
文献类型：
--
作者：
KARAYIORGOU, P;MORRIS, MA;HOUSMAN, DE
我们报告了两项研究的结果，这两项研究考察了精神分裂症和瓣膜综合征之间的基因重叠。在研究A中，我们在精神分裂症患者的样本中发现了两个位于染色体22q11上的间质缺失。据估计，缺失的大小在1.5到200万个数据库之间。在研究B中，我们研究了缺失大小的变化是否与瓣膜-面部综合征患者的精神分裂症表型有关。我们的结果表明，基因组中以前被遗传连锁分析牵连的一个区域可能含有增加精神分裂症易感性的遗传损伤。我们的发现将有助于该区域精神分裂症易感基因(S)的鉴定和克隆，并有助于鉴定更多同质性的患者亚群。
We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.