中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
3期
266-269
,共4页
何文智%刘维强%钟鑫琪%陈晓林%李少英%张慧敏%黎青%崔其亮%孙筱放
何文智%劉維彊%鐘鑫琪%陳曉林%李少英%張慧敏%黎青%崔其亮%孫篠放
하문지%류유강%종흠기%진효림%리소영%장혜민%려청%최기량%손소방
孤独症%拷贝数变异%微阵列比较基因组
孤獨癥%拷貝數變異%微陣列比較基因組
고독증%고패수변이%미진렬비교기인조
Autism spectrum disorders%Copy number variation%Array-based comparative genomic hybridization
目的 对1个孤独症家系进行新发拷贝数变异(copy number variations,CNV)分析.方法 应用高分辨率全基因组芯片(Affymetrix Cytogenetics Whole-Genome 2.7M Array)检测该家系4名成员的基因组拷贝数,用Affymetrix Chromosome Analysis Suite软件分析结果.以基因组变异数据库亚洲正常人群及先证者父母、同胞为对照,分析先证者的新发CNV.结果 先证者存在89个新发拷贝数变异,其中5号、11号和14号染色体新发CNV总长占染色体全长超过1‰.3p26.1、4q22.2、5p15.2等区域也存在新发CNV,涉及GRM7、GRID2、CTNND2等10个与神经系统发育相关基因.结论 先证者多个与神经系统发育相关的基因存在新发拷贝数变异,这为探索孤独症的发病机理提供了新的线索.高分辨率基因组CNV芯片能够快速、准确地检测基因组的微小失衡,在遗传病诊断方面具有广阔的应用前景.
目的 對1箇孤獨癥傢繫進行新髮拷貝數變異(copy number variations,CNV)分析.方法 應用高分辨率全基因組芯片(Affymetrix Cytogenetics Whole-Genome 2.7M Array)檢測該傢繫4名成員的基因組拷貝數,用Affymetrix Chromosome Analysis Suite軟件分析結果.以基因組變異數據庫亞洲正常人群及先證者父母、同胞為對照,分析先證者的新髮CNV.結果 先證者存在89箇新髮拷貝數變異,其中5號、11號和14號染色體新髮CNV總長佔染色體全長超過1‰.3p26.1、4q22.2、5p15.2等區域也存在新髮CNV,涉及GRM7、GRID2、CTNND2等10箇與神經繫統髮育相關基因.結論 先證者多箇與神經繫統髮育相關的基因存在新髮拷貝數變異,這為探索孤獨癥的髮病機理提供瞭新的線索.高分辨率基因組CNV芯片能夠快速、準確地檢測基因組的微小失衡,在遺傳病診斷方麵具有廣闊的應用前景.
목적 대1개고독증가계진행신발고패수변이(copy number variations,CNV)분석.방법 응용고분변솔전기인조심편(Affymetrix Cytogenetics Whole-Genome 2.7M Array)검측해가계4명성원적기인조고패수,용Affymetrix Chromosome Analysis Suite연건분석결과.이기인조변이수거고아주정상인군급선증자부모、동포위대조,분석선증자적신발CNV.결과 선증자존재89개신발고패수변이,기중5호、11호화14호염색체신발CNV총장점염색체전장초과1‰.3p26.1、4q22.2、5p15.2등구역야존재신발CNV,섭급GRM7、GRID2、CTNND2등10개여신경계통발육상관기인.결론 선증자다개여신경계통발육상관적기인존재신발고패수변이,저위탐색고독증적발병궤리제공료신적선색.고분변솔기인조CNV심편능구쾌속、준학지검측기인조적미소실형,재유전병진단방면구유엄활적응용전경.
[Objective]To analyze de novo copy number variations (CNVs) in a Chinese family affected with autism spectrum disorders (ASD).[Methods] Affymetrix Cytogenetics Whole-Genome 2.7M Array assay was performed to identify potential CNVs in four members from the family.[Results] A total of 89 de novo CNV regions were identified in the autistic siblings.The CNV regions in total have exceeded 1‰ of the lengths of chromosomes 5,11 and 14.In addition,de nouo CNV regions were also identified at 3p26.1,4q22.2,and 5p15.2,which encompassed 10 genes associated with nerve development including GRM7,GRID2 and CTNND2.[Conclusion] A number of nerve development associated genes were at the de novo CNV sites,which may provide new clues for genetic research of ASD.High-resolution array comparative genomic hybridization is an effective method for detecting submicroscopic chromosomal imbalances.
