先天性心脏缺陷患者染色体22q11微缺失的检测

Detection of Chromosome 22q11 Micro-deletion in Patients with Congenital Heart Defect

目的:通过建立先天性心脏缺陷患者染色体22q11微缺失的诊断方法,探讨各类先天性心脏缺陷患者染色体22q11微缺失发生情况。方法:应用生物素标记的染色体22q11区域特异探针,对外周血淋巴细胞和羊水细胞染色体进行原位杂交遗传检测和产前诊断。结果:在50例先天性心脏病患者中,有5例患者染色体22q11微缺失,缺失率为10%。5例孕妇产前诊断未发现染色体22q11微缺失。结论:应用荧光原位杂交法检测22q11微缺失可作为先天性心脏缺陷病因诊断的方法,通过产前诊断可以避免染色体22q11微缺失的心脏缺陷患儿出生。

Objective： To construct gene diagnosis method for chromosome 22q11 micro - deletion in patients with congenital heart defect and study the situation of 22q11 micro - deletion occurrence in various heart defect. Methods ： Fluorescence in situ hybridization （FISH） and prenatal diagnosis were adopted in peripheral blood lymphocyte and amniotic fluid cell, using the specific biotin labeled DNA probe of chromosome 22q11 domain. Results ： 5 cases （ 10% ） were detected with chromosome 22q11 microdeletion in 50 patients with congenital heart disease. And no 22q11 micro- deletion was presented in 5 pregnant women by prenatal diagnosis. Conclusion： The FISH is an accurate and specific detection method for the chromosome 22q11 micro - deletion. And the birth of infants with 22q11 micro - deletion may be avoided by prenatal diagnosis.