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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 establish a rapid and effective detection of chromosome 22q11 microdeletion in patients with congenital heart disease (CHD). METHODS: Five short tandem repeat polymorphisms (STRs) (D22S941, D22S944, D22S264, D22S311, D22S306) were selected from the region of 22q11, and 20 cases of CHD patients and their parents were screened for 22q11 microdeletions by PCR amplification. The results found that 4 cases of CHD patients may have 22q11 microdeletions. Of the suspected cases of positive screening using fluorescence-labeled PCR-STR typing method for diagnosis, the results of a confirmed case of D22S941 deletion. Conclusion This study shows that the common PCR method can only be used as a means of screening 22q11 microdeletions. The fluorescence-labeled PCR-STR typing can be used as a diagnostic method for 22q11 microdeletions because of its accuracy and high efficiency.