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目的运用高分辨率的Array-basedCGH(aCGH)技术研究染色体的微小变异(缺失或扩增)引起的胎儿畸形综合征,及其形成机理。方法采用Agilent4×44K CGH芯片对一个正常标本和三个畸形胎儿标本DNA(M1正常胎儿;M2腹壁缺损;M3单脐动脉合并先天性心脏病,右室双出口,室间隔缺损,肺动脉狭窄,二尖瓣闭锁;M4染色体核型47,+21,先天性心脏病,室间隔缺损,胎儿一侧侧脑室增宽,胎儿偏小)进行比较基因组杂交检测。结果 M2/M1:高拷贝(扩增)560条DNA(基因)片断,低拷贝或缺失1504条DNA(基因)片断;M3/M1:高拷贝511条DNA(基因)片断,低拷贝或缺失1142条DNA(基因)片断;M4/M1:高拷贝3034条DNA(基因)片断,低拷贝或缺失3571条DNA(基因)片断。结论染色体片段的微小变异是引起胎儿畸形综合征的主要病因之一,高分辨率的aCGH技术可快速准确对其检测和产前诊断。
Objective To study the fetal malformation syndrome caused by small variation (deletion or amplification) of chromosomes and its formation mechanism using high-resolution Array-based CGH (aCGH) technique. Methods The DNA was extracted from a normal specimen and three deformed fetal DNA samples (M1 normal fetus; M2 abdominal wall defect; M3 single umbilical artery with congenital heart disease, right ventricular double outlet, ventricular septal defect, pulmonary stenosis, Mitral atresia; M4 karyotype 47, +21, congenital heart disease, ventricular septal defect, fetal lateral ventricle widening, fetus smaller) for comparative genomic hybridization. Results M2 / M1: 560 copies of high-copy (amplified) DNA fragments, low copy or deletion of 1504 DNA fragments; M3 / M1: 511 copies of high-copy, low copy or deletion 1142 DNA (gene) fragment; M4 / M1: high copy of 3034 DNA (gene) fragments, low copy or deletion of 3571 DNA (gene) fragments. Conclusion Small variations in chromosome fragments are one of the major causes of fetal malformation syndrome. High-resolution aCGH can rapidly and accurately detect and prenatal diagnosis.