不同遗传学检测技术在Prader-Willi综合征诊断中的应用

Application of various genetic techniques for the diagnosis of Prader-Willi syndrome

目的:通过对2例不同类型的Prader-Willi综合征的诊断,分析不同的分子遗传实验技术在这类罕见遗传病诊断中应用的优点和局限性。方法:首先应用染色体微阵列分析(chromosomal microarray analysis,CMA)对2例全面发育迟滞的婴幼儿血液样本进行初步检测,之后对病例1行CMA家系分析,用ChAS和UPD-tool软件计算检测数据。对病例2加做甲基化特异性PCR检测。结果:病例1经CMA和UPD-tool家系分析诊断为母源单亲二体型Prader-Willi综合征,并发现该病例的15号染色体实际为同源/异源一体的整条母源单亲二体型。病例2经CMA结合甲基化特异性PCR检测诊断为缺失型Prader-willi综合征。结论:针对不同分子遗传检测技术的优点和局限性合理选择正确的实验方法,能够有效地帮助临床和准确诊断基因组印记病,以便及早干预、治疗,获得更好的疗效和预后。

Objective To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation.Methods The two patients were initially screened by using chromosomal microarray analysis(CMA).For patient 1,his parents were also subjected to CMA analysis,and the data was analyzed by using ChAS and UPD-tool software.For patient 2,methylation-specific PCR(MS-PCR)was carried out.Results Patient 1 was diagnosed with maternal uniparental disomy(UPD)type Prader-Willi syndrome(PWS)by CMA and UPD-tool family analysis.His chromosomes 15 were of maternal UPD with homology/heterology.Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR.Conclusion Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.