应用PCR技术检测先心病患者中22q11微缺失

Detection of chromosome 22q11 microdeletion in patients with congenital heart disease using PCR method

目的为了建立一种在先天性心脏病(congenital heart disease,CHD)患者中快速、有效检测染色体22q11微缺失检测方法。方法从22q11区域内选取5个短串联重复多态位点(STRs)(D22S941、D22S944、D22S264、D22S311、D22S306),应用PCR扩增方法对20例CHD患者及其父母进行22q11微缺失筛查。结果发现4例CHD患者可能存在22q11微缺失。对筛查出可疑阳性病例再运用荧光标记PCR-STR分型方法进行诊断,结果有1例确诊为D22S941缺失。结论此项研究表明普通PCR方法只能作为22q11微缺失筛查的一种手段,荧光标记PCR-STR分型由于准确、高效,可以作为22q11微缺失确诊方法。

Objective： To develop a rapid, economical and efficient approach for molecular detection of 22q11.2 microdeletion in patients with congenital heart diseases （CHD）. Methods： Five repeat markers （D22S941, D22S944, D22S264, D22S311, D22S306） located in the proximal region of chromosome 22ql 1 were selected in this study. Twenty patients with congenital heart disease and their unaffected parents were analysized by using PCR method to screen 22ql 1 microdeletion. Results： Four cases may have the deletion at chromosome 22q11. The deletions were confirmed further by fluorescence labeling PCR and one patient had the 22ql 1 deletion. Conclusion： This study demonstrated that genotying of STR markers was a useful means of screening 22ql1 microdeletion for its easy experimental procedures, cost effectiveness, while fluorescence labeling PCR - STR typing method can be used in this microdeletion diagnosis, because that it was accurate and effective.