染色体微小易位致智力障碍家系的遗传学研究  

Genetic study of familial intellectual disability with minute translocation

作　　者：林欣怡 宋新明[1,2] 李颖 曾艳红 陈争[1] LIN Xin-yi;SONG Xin-ming;LI Ying;ZENG Yan-hong;CHEN Zheng(Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080;Changsha Reproductive Medical Hospital, Changsha, Hunan 410205;Reproductive Medical Center, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, China)

机构地区：[1]中山大学中山医学院医学遗传教研室,广东广州510080 [2]长沙生殖医学医院,湖南长沙410205 [3]中山大学附属第一医院生殖医学中心,广东广州510080

出　　处：《热带医学杂志》2018年第5期574-577,602,共5页Journal of Tropical Medicine

摘　　要：目的应用细胞-分子遗传学及生物信息学分析染色体易位致智力障碍家系病因。方法选用染色体核型分析、基因芯片技术确定智力障碍(ID)患者及染色体微小易位携带者流产胚胎的遗传学改变,生物信息学分析这些改变与ID的关系。结果染色体易位携带者核型均为14和19号染色体的平衡易位;ID患者核型为14q32.2→qter部份三体及19p13.3→pter部份单体,基因芯片检测确定为14q32.2q32.33(101,198,608-107,284,437)×3,19p13.3(260,911-702,733)×1。生物信息学分析发现BSG、HCN2、FGF22和DYNC1H1等基因为关键基因。结论染色体微小易位导致的遗传物质重排更易生育异常后代,染色体末端拷贝数变异与家系中智力低下患者发病有关。Objective To investigate the pathogenesis of familial intellectual disability（ID）with the application of cellularmolecular genetics and bioinformatics analysis. Methods Karyotype analysis and gene chip technique were used to locate the genetic aberrations in ID patients and aborted fetus. The relationship between the genetic aberrations and ID was studied using bioinformatics analysis. Results The karyotype of the chromosome translocation carriers were all balanced translocation,while the ID patients were found 14 q32.2→qter partial trisomy and 19p13.3→pter partial monosomy. Gene chip results revealed 14q32.2 q 32.33（101,198,608-107,284,437）× 3,and 19 p13.3（260,911-702,733）× 1.Bioinformatics analysis indicated the BSG,HCN2,FGF22,and DYNC1H1 genes could be involed. Conclusion Minute chromosome translocation carriers were prone to having abnormal offspring. Subtelomeric copy number variations might be related to the pathogenesis of ID.

关 键 词：智力障碍 核型分析 基因芯片 生物信息学分析 

分 类 号：R394[医药卫生—医学遗传学]