t(3;18)重排断裂点分子作图及非综合征型智力低下新候选致病基因定位  

Breakpoint mapping of balanced translocation t (3;18) and locating novel candidate genes of NSMR

作　　者：顾恒[1] 黄阳玉[2] 宋新明[1] 师蕊婷[1] 陈争[1] 

机构地区：[1]中山大学中山医学院遗传学教研室,广东广州510080 [2]潮州市妇幼保健院,广东潮州521000

出　　处：《解剖学研究》2013年第2期104-108,111,共6页Anatomy Research

基　　金：国家自然科学基金(30971601);广东省自然科学基金(9151008901000089);广东省科技计划项目(2010B031600039)

摘　　要：目的应用染色体断裂点分子作图,精确确定非综合征型智力低下伴孤独症状患者新发(de nove)染色体易位的染色体重排断裂点,定位智力低下及孤独症新候选致病基因。方法选用荧光原位杂交、长片段PCR和断裂接头序列直接测序技术和生物信息学分析精确确定染色体重排断裂点的碱基位置及染色体断裂重排所影响的基因。结果在分子水平精确定位了染色体断裂点,在国内首次成功确定1个智力低下/孤独症新候选致病基因。结论染色体断裂点分子作图已成为确定候选新致病基因最有用和最有效的方法之一。Objective To locate the chromosome breakpoint of novel chromosome translocation of one patient with nonsyndromic mental retardation and autism; to identify novel candidate gene of mental retardation and autism. Methods Using fluorescence in situ hybridization （FISH）, long range PCR, fracture joint sequence direct sequencing and bioinformatic analysis to locate the chromosome breakpoint and identify the affected genes caused by chromosome rearrangement. Results Locate the candidate genes successfully in nucleinic acid level and identify one novel candidate gene of mental retardation and autism which was firstly reported in China. Conclusion Breakpoint mapping of balanced chromosome rearrangements is proved to be one of the most available and effective way to confirm the novel candidate genes of mental retardation and autism.

关 键 词：智力低下 孤独症 染色体断裂点分子作图 荧光原位杂交 长片段PCR 

分 类 号：R749.94[医药卫生—神经病学与精神病学]