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目的通过应用多重连接依赖式探针扩增(MLPA)技术对3例猫叫综合征(CDCS,5p缺失综合征)进行分析,旨在探索可快速诊断CDCS的分子遗传学方法。方法对3个CDCS患者及其父母、患者1的异卵双生之姐姐,进行MLPA分析,检测CDCS关键区域5p15.33:包括hTERT基因在内的9个位点的基因拷贝数的变化;同时,对相应标本进行染色体G-显带核型分析。结果在接到标本24-48h,MLPA示:3例患儿均存在CDCS关键区域5p15.33包含hTERT在内的基因缺失,其父母及患者1异卵双生之姐姐未见缺失。7-10天后G显带染色体核型分析示:患儿2、3为单纯5号短臂(5p)末端缺失,其父母正常;患儿1病例在国内尚属少见,核型为:45,XY,-22,-5p,+der(5)t(5;22),携带了一条源于5p和22p易位而来衍生的5号染色体,其父母及异卵双生之姐姐均正常。MLPA与核型分析结果一致:3例患儿均为CDCS患者。结论 MLPA是一种可快速诊断CDCS的分子遗传学方法,具有临床应用价值。
Objective To analyze 3 cases of cat-like syndrome (CDCS, 5p deletion syndrome) by MLPA (Multiligation-dependent Probe Amplification), and to explore molecular genetic methods for rapid diagnosis of CDCS. Methods MLPA analysis was performed on 3 CDCS patients and their parents and 1 siblings, and the changes of 5p15.33: gene copy number of 9 loci including hTERT gene were detected in key regions of CDCS. At the same time, Chromosome G-banding karyotype analysis of the corresponding specimens. Results After receiving samples 24-48h, MLPA showed that all three cases had deletion of 5p15.33 gene including hTERT in the critical region of CDCS, and no deletion was found in the parents and the fraternal sister of patient 1 fraternal twins. After 7-10 days, the karyotype analysis of G-banding karyotype showed that the children 2 and 3 were the deletion of 5-terminal short arm (5p) and their parents were normal; 1 case was rare in China and the karyotype was 45, XY, -22, -5p, + der (5) t (5; 22), carrying a chromosome 5 derived from the translocation of 5p and 22p, whose parents and fraternal twins are normal. MLPA consistent with karyotyping: 3 patients were all CDCS patients. Conclusion MLPA is a molecular genetic method for rapid diagnosis of CDCS and has clinical value.