摘要
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 ： By using multiplex ligation - dependent probe amplification （MLPA） aimed at explore a rapid dignosis methods to Cri - du - Chat syndrome （ CDCS or 5p deletion syndrome）, with molecular genetics techniques. Methods ： For the 3 cases and their parents and fraternal twins sister of case 1, MLPA were used to detect copy number changes of gene at the critical region 5 plS. 33 of CDCS, where including hTERT gene. Chromosome G -banding karyotype analysis as well as were performed on the corre-sponding samples at the same time. Results ： It was shown with MLPA in 24 - 48 hours ： there had copy number deletion of the hTERT gene at the critical region 5 plS. 33 of CDCS of 3 case. All of them are CDCS while their parents and fraternal twins sister of case 1 showed a normal karyotype pattern. After 7 - 10 days, G - banded karyotype analysis of Cases 2 and 3 revealed abnormal 46, XX, del （5） （p13 - 15） female karyotypes, and their parents showed a normal karyotype pattern; But for case 1, which showed an abnormal karyotype involving a balanced translocation 45, XY, - 22, - 5 p, ＋ der （5） t （5 ; 22）, and there are derivative chromosome 5 carry out a 5 p and 22 p translocation, and their parents and fraternal twins sister of case 1 showed a normal karyotype pattern. The karyotypes results shown that 3 cases were CDC, which were in accordance with MLPA. Conclusion： MLPA could be as a rapid molecular genetic techniques to diagnose CDCS, and which have clinical application value.
出处
《中国优生与遗传杂志》
2013年第12期73-75,共3页
Chinese Journal of Birth Health & Heredity
