CAJ | 학술논문

目的了解原发性智力低下伴单发或多发畸形患儿中染色体亚端粒重排的发生率,寻找智力低下的致病原因.方法 180例符合本组入选标准的原发性智力低下患儿,抽取外周血,乙二胺四乙酸钠(EDTA)抗凝.提取基因组DNA并进行纯化.用多重连接依赖的探针扩增(MLPA)方法的试剂盒P036B/C和P070进行检测,对使用2个试剂盒均存在相同异常的样本,再选用针对异常区域特异性的试剂盒P096、P064和P023鉴定或判断发生异常片段的大小.MLPA主要实验步骤包括:DNA变性、分子杂交、连接反应和特异PCR扩增,扩增的PCR产物用ABI 3100测序仪进行基因型分析,最终所得数据用GeneMarker软件进行分析.结果在180例原发性智力低下患儿中发现13例存在染色体亚端粒重排(7%):其中12例为致病性,均为新生突变;1例2号染色体长臂末端缺失(2qdel)来源于表型正常的父亲.结论亚端粒重排是原发性智力低下伴单发或多发畸形的致病原因.
목적 료해원발성지력저하반단발혹다발기형환인중염색체아단립중배적발생솔,심조지력저하적치병원인.방법 180례부합본조입선표준적원발성지력저하환인,추취외주혈,을이알사을산납(EDTA)항응.제취기인조DNA병진행순화.용다중련접의뢰적탐침확증(MLPA)방법적시제합P036B/C화P070진행검측,대사용2개시제합균존재상동이상적양본,재선용침대이상구역특이성적시제합P096、P064화P023감정혹판단발생이상편단적대소.MLPA주요실험보취포괄:DNA변성、분자잡교、련접반응화특이PCR확증,확증적PCR산물용ABI 3100측서의진행기인형분석,최종소득수거용GeneMarker연건진행분석.결과 재180례원발성지력저하환인중발현13례존재염색체아단립중배(7%):기중12례위치병성,균위신생돌변;1례2호염색체장비말단결실(2qdel)래원우표형정상적부친.결론 아단립중배시원발성지력저하반단발혹다발기형적치병원인.
Objective To study the rate of subtelomeric rearrangements in patients with idiopathic mental retardation (MR) and to search the cause of MR.Methods DNA was extracted and purified from peripheral blood leukocytes of 180 patients with idiopathic MR.DNA was tested using specific subtelomeric multiplex ligation-dependent probe amplification (MLPA) kits P036B/C and P070 according to manufacturer's instructions.The amplification products were separated by capillary electrophoresis using an ABI 3100 automated sequencer and size standard.MLPA data were extracted by GeneScan Analysis software.Data normalization and analysis were performed with the built-in MLPA application in GeneMarker.Results Among 180 patients with idiopathic MR,12 had pathological subtelomeric deletions including 3 cases with a 4p deletion,2 cases with a deletion at 9q and 22q respectively,1 case with a deletion at 1p,7p,8p,9q and 12q respectively.Subtelomeric rearrangements were responsible for 7% cases of idiopathic mental retardation.Conclusion Subtelomeric rearrangement is a common cause of idiopathic mental retardation.