22q11.2微缺失在贵州少数民族先天性心脏病患者中的研究

Study on 22q11.2 microdeletion in patients with congenital heart disease in the minority in Guizhou province

目的探索22q11.2微缺失在贵州少数民族先天性心脏病患者中的发病情况。方法选取44例苗族、侗族及布依族先天性心脏病患者,在UCSC数据库中选择合适的BAC克隆,自制双色BAC探针,采用双色细菌人工染色体-荧光原位杂交技术对上述患者进行22q11.2微缺失检测。结果在2例法洛四联症患者中检测到22q11.2微缺失,缺失率为4.5%(2/44)。结论在苗族、布依族、侗族等少数民族先天性心脏病患者中存在22q11.2微缺失现象,对发现的阳性患者应密切观察其行为和认知方面的发育情况,一旦发现异常,应予以积极干预。

Objective To determine the frequency of 22 qll.2microdeletions in patients with congenital heart disease in the Miao,Dong and Buyi minorities in Guizhou province.Methods A total of 44 patients with congenital heart disease,22 female and 22 male,ranging in age from 0.58 to 53years,were included in our study.The duralcolor bacterial artificial chromosome（BAC）fluorescence in situ hybridization with RP11-316L10/CTD-2335H16 probe was used to find the chromosome 22 qll.2deletion in peripheral blood cells of patients.Results Chromosome22 qll.2microdeletion was detected in 2（2/44）patients with tetralogy of fallot.The total frequency of 22 qll.2deletion was 4.5%.Conclusion There is 22 qll.2microdeletion in Miao,Dong and Buyi minorities.