CAJ | 학술논문

目的评估高分辨微阵列比较基因组杂交技术(Array CGH)在临床复杂染色体异常遗传诊断中应用的可行性.方法选取2010年12月至201 1年12月厦门市妇幼保健院遗传咨询门诊患者2例、产前诊断门诊患者2例.2例遗传咨询患者按无菌要求、EDTA抗凝,采集2～4 ml外周血；2例产前诊断患者,经遗传咨询、术前检查后,于手术室B超引导下抽取约2～3ml脐血.对4份标本分别进行染色体核型分析,同时提取4份标本的全基因组DNA,应用Array CGH进行亚显微水平分析.Array CGH结果最后通过荧光原位杂交技术(FISH)进行验证.结果 Array CGH检测发现4例患者在多条染色体上均出现不同程度的复制和缺失,这些复制和缺失大多数没有被核型分析检测到.1号病例为4p16.3-4p15.31复制、4p16.3端粒区缺失；2号病例为Xp11.22-Xq11.1复制；3号病例为2q37.3缺失、4p16.3-4p15.32复制；4号病例为2q14.3-2q21.1缺失、2q21.2-2q32.1复制.FISH检测与Array CGH结果相吻合.结论 Array CGH可以准确检测亚显微的微小片段缺失、复制等拷贝数变化,且能确定断裂位点,可为临床遗传诊断提供依据.
목적 평고고분변미진렬비교기인조잡교기술(Array CGH)재림상복잡염색체이상유전진단중응용적가행성.방법 선취2010년12월지201 1년12월하문시부유보건원유전자순문진환자2례、산전진단문진환자2례.2례유전자순환자안무균요구、EDTA항응,채집2～4 ml외주혈；2례산전진단환자,경유전자순、술전검사후,우수술실B초인도하추취약2～3ml제혈.대4빈표본분별진행염색체핵형분석,동시제취4빈표본적전기인조DNA,응용Array CGH진행아현미수평분석.Array CGH결과최후통과형광원위잡교기술(FISH)진행험증.결과 Array CGH검측발현4례환자재다조염색체상균출현불동정도적복제화결실,저사복제화결실대다수몰유피핵형분석검측도.1호병례위4p16.3-4p15.31복제、4p16.3단립구결실；2호병례위Xp11.22-Xq11.1복제；3호병례위2q37.3결실、4p16.3-4p15.32복제；4호병례위2q14.3-2q21.1결실、2q21.2-2q32.1복제.FISH검측여Array CGH결과상문합.결론 Array CGH가이준학검측아현미적미소편단결실、복제등고패수변화,차능학정단렬위점,가위림상유전진단제공의거.
Objective To evaluate application feasibility of Array CGH in genetic diagnosis of clinical complex chromosomal abnormalities.Methods Two patients of genetic counseling and two patients of prenatal diagnosis were selected from Xiamen Maternity & Child Health Care Hospital during the period of December 2010 to December 2011.Under aseptic conditions 2-4 ml peripheral blood was collected in EDTA and 2-3 ml Cord Blood was collected through cordocentesis after genetic counseling and preoperative examination.G-banded chromosome analysis and genome DNA extraction were carried out on the four cases.The whole genome of four cases were scanned and analyzed by Array CGH.The results of Array CGH were confirmed by FISH.Results Array CGH detected different kinds of duplications and deletions in several chromosomes.Most of these duplications and deletions were not detected by karyotype analysis.The results of Array CGH showed duplication of 4p16.3-4p15.31,deletion of 4p16.3 in the first case,duplication of Xp11.22-Xq11.1 in the second case,duplication of 4p16.3-4p15.32,deletion of 2q37.3 in the third case and duplication of 2q21.2-2q32.1,deletion of 2q14.3-2q21.1 in the fourth case.These duplications and deletions were confirmed by FISH.Conclusions Compared with conventional cytogenetic analysis,Array CGH can not only accurately detect micro deletion and micro duplication with high resolution and sensitivity but also identify breakpoints precisely.Array CGH can provide the basis for clinical genetic diagnosis.