中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
5期
571-575
,共5页
陈瑛%毛君%郭家贤%阚惠娟%程洪波%李海波%刘敏娟%孙颖%严文华%李红%蔡光伟
陳瑛%毛君%郭傢賢%闞惠娟%程洪波%李海波%劉敏娟%孫穎%嚴文華%李紅%蔡光偉
진영%모군%곽가현%감혜연%정홍파%리해파%류민연%손영%엄문화%리홍%채광위
非综合征先天性心脏病%22q11微缺失%定量荧光聚合酶链反应%短串联重复
非綜閤徵先天性心髒病%22q11微缺失%定量熒光聚閤酶鏈反應%短串聯重複
비종합정선천성심장병%22q11미결실%정량형광취합매련반응%단천련중복
non-syndromic congenital heart defects%22q11 microdeletion%quantitative fluorescent polymerase chain reaction%short tandem repeat
目的 建立对22q11染色体微缺失进行快速批量检测的技术,用于非综合征先天性心脏病患 者染色体微缺失情况的检测.方法 采用定量荧光聚合酶链反应(quantitative fluorescent polymerase chain reaction,QF-PCR)法和8个短串联重复(short tandem repeat,STR)多态标记对79例中国汉族非综合征先天性心脏病(congenital heart defects,CHD)患者和84名正常对照者进行染色体22q11微缺失的检测.结果 缺失区域的STR标记在受检的非综合征型先天性心脏病患者中的平均杂合率为0.76,在正常对照人群中为0.79.在受检的1例法洛氏四联症患儿中检测到22q11微缺失(1.3%),经多重连接依赖探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术验证结果正确.结论 采用QF-PCR法,可以高效批量地对22q11染色体微缺失进行筛查.
目的 建立對22q11染色體微缺失進行快速批量檢測的技術,用于非綜閤徵先天性心髒病患 者染色體微缺失情況的檢測.方法 採用定量熒光聚閤酶鏈反應(quantitative fluorescent polymerase chain reaction,QF-PCR)法和8箇短串聯重複(short tandem repeat,STR)多態標記對79例中國漢族非綜閤徵先天性心髒病(congenital heart defects,CHD)患者和84名正常對照者進行染色體22q11微缺失的檢測.結果 缺失區域的STR標記在受檢的非綜閤徵型先天性心髒病患者中的平均雜閤率為0.76,在正常對照人群中為0.79.在受檢的1例法洛氏四聯癥患兒中檢測到22q11微缺失(1.3%),經多重連接依賴探針擴增(multiplex ligation-dependent probe amplification,MLPA)技術驗證結果正確.結論 採用QF-PCR法,可以高效批量地對22q11染色體微缺失進行篩查.
목적 건립대22q11염색체미결실진행쾌속비량검측적기술,용우비종합정선천성심장병환 자염색체미결실정황적검측.방법 채용정량형광취합매련반응(quantitative fluorescent polymerase chain reaction,QF-PCR)법화8개단천련중복(short tandem repeat,STR)다태표기대79례중국한족비종합정선천성심장병(congenital heart defects,CHD)환자화84명정상대조자진행염색체22q11미결실적검측.결과 결실구역적STR표기재수검적비종합정형선천성심장병환자중적평균잡합솔위0.76,재정상대조인군중위0.79.재수검적1례법락씨사련증환인중검측도22q11미결실(1.3%),경다중련접의뢰탐침확증(multiplex ligation-dependent probe amplification,MLPA)기술험증결과정학.결론 채용QF-PCR법,가이고효비량지대22q11염색체미결실진행사사.
Objective To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting de122q11 in patients with non-syndromic congenital heart defects (CHD). Methods Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR). Results The average heterozygosity of the STR markers in patients and controls was 0. 76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA). Conclusion The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.
