Angelman综合征的遗传学诊断

目的 探讨Angelman综合征(Angelman syndrome,AS)的遗传学诊断,为临床诊断和遗传咨询提供信息.方法 应用甲基化特异性PCR(methylation-specific PCR,MS-PCR)对16例临床疑似AS病例进行基因诊断,并选择15号染色体特定区域内、外的短串联重复序列作为遗传标记对MS-PCR诊断阳性的AS核心家系进行连锁分析,以进一步确定其分子病理学类型.结果 应用MS-PCR技术诊断10例AS患儿,家系连锁分析显示10例AS患儿中有9例为15q11-13片段缺失型,1例为印记缺陷型.结论 MS-PCR检测能够诊断大部分AS,家系连锁分析可进一步区分其具体的分子病理学类型.开展相关的遗传诊断对临床诊断、遗传咨询以及产前诊断都具有积极的作用.

A study on genetic diagnosis for Angelman syndrome

Objective To study the genetic diagnosis of Angelman syndrome(AS), and provide information for clinic diagnosis and counseling to AS families. Methods Methylation-speeific PCR (MS-PCR) was used for primary diagnosis of 16 clinically suspected AS cases, and linkage analysis by short tandem repeat (STR) was applied to detect the molecular genetic defect in the nuclear families. Results In this study, 10 AS patients were identified by MS-PCR, and 9 of them with maternal deletion in chromosome 15q11-q13, 1 with imprinting defect in chromosome 15q11-q13 were confirmed by STR linkage analysis.Conclusion Most of the AS patients could be confirmed by MS-PCR. And STR linkage analysis can detect the molecular defect of AS. It is very important for disease diagnosis, genetic counseling and prenatal diagnosis to perform the related genetic diagnosis.