Genetics Core

遗传学核心的目标是支持研究，以更好地了解基因的作用 与正常和异常的身体、认知和/或行为发育相关的因素。支撑点 研究的重点是各种疾病的病因、自然病史和预后。 发育迟缓、神经精神障碍以及发育迟缓的行为和生理特征 残疾人士。这些包括与基因组拷贝数变化相关的表型变异，酶促 缺陷和新疗法，基因发现，突变分析，基因-表型相关性，以及 拷贝数变化在发病中的作用。Genetics Core提供的服务包括：(1)细胞系 建立和组织培养；(2)细胞遗传学分析，即核型和原位荧光 杂交，(3)单核苷酸多态微阵列，(4)用基因组鉴定区域 基因组异常的纯合性和起源亲本。核心还作为IDDRC支持的项目与在UNS内建立的其他遗传学核心设施的资源的接口 霍普金斯医疗机构。

The objective of the Genetics Core is to support research to better understand the role of genetic factors associated with normal and abnormal physical, cognitive and/or behavioral development. Supported research focuses on etiology, natural history and prognosis of a variety of conditions associated with developmental delay, neuropsychiatric disorders, and behavioral and physical features of developmental disabilities. These include phenotypic variations associated with genomic copy number changes, enzymatic deficiencies and new therapies, gene discovery, mutation analysis, genotype-phenotype correlation, and the role of copy number changes in morbidity. The services provided by the Genetics Core include: (1) cell line establishment and tissue culture, (2) cytogenetic analysis, namely karyotype and fluorescence in situ hybridization, (3) single nucleotide polymorphism microarray, and (4) identification of regions with genomic homozygosity and parent of origin for genomic abnormalities. The Core also serves as an interface for IDDRC-supported projects with the resources of the other Genetics Core facilities established within the Johns Hopkins Medical Institutions.