多重PCR对22q11缺失综合征的检测

目的 :获得一种快速、简便检测 2 2 q11微缺失的临床实用方法 ,并对先天性锥干畸形中 2 2 q11缺失进行检测分析。方法 :运用 2 2 q11.2 5个连续短串联重复多态位点 ( STRPs)进行多重 PCR扩增筛检微缺失 ,通过绘制产量扩增曲线 ,进行光密度扫描检测以及 FISH等方法进行验证。结果 :95例锥干畸形患者中 ,2 1例在 5个位点均为单一条带 ,通过光密度扫描检测、 FISH方法一致验证其中 19例为缺失患者 ,敏感性达 10 0 % ,特异性达 97.3%。先天性锥干畸形中 2 2 q11缺失的发生率为 2 0 %。结论　对于检测 2 2 q11微缺失综合征多重 PCR是一种简便、高效、实用的临床方法

Detection of the 22q11 deletion syndrome by multiplex PCR

Objective: To develop a reliable and efficient means to assess a patient's likelihood of having a 22q11 deletion and study the deletion in the patients with congenital conotruncal defects (CTD). Methods: Using multiplex PCR to screen the micro deletion based on homozygosity at consecutive five short tandem repeat polymorphisms (STRP). The sensitivity and specificity of PCR assay were evaluated by protracting a amplifying curve to density scan and FISH. Results: In 95 cases of CTD, 21 patients demonstrated homozygote at 5 sTRPs loci. Among them, FISH studies and density scanning have confirmed that 19 cases had the deletion. Thus, the PCR for detecting the 22q11 deletion using these 5 STRPs has a sensitivity and specificity of 100% and 97.3%, respectively. The deletion rate of patients with CTD is 20%. Conclusion: The multiplex PCR is so convenient, reliable and efficient that can be widely accepted as clinical diagnostic test.