一例Prader-Willi综合征的临床及表观遗传学研究

Clinical and epigenetic study of a case of Prader-Willi syndrome

目的分析Pradet-Willi综合征(PWS)的临床及表观遗传学特征。方法应用重硫酸盐测序法对一例临床高度疑似PWS的患者及其父母的15q11-q13印迹中心SNRPN基因alpha外显子的10个CpG位点的甲基化情况进行分析。结果患者SNRPN基因位点的10个CpG位点完全甲基化,而其父母则是部分甲基化。结论SNRPN基因位点的DNA甲基化异常可能是该PWS患者的分子遗传缺陷。

Objective To analyse the clinical and epigenetic characteristics of a case with Prader-Willi syndrome （ PWS）. Methods Bisulphate sequencing was applied to analyse the methylation of the CpG islands in the SNRPN gene locus. Results Complete hypermethylation of 10 CpG islands in the SNRPN gene locus was detected in the patient, while semi-methvlation in her normal parents. Conclusion Abnormal methylation of the CpG islands in the SNRPN gene locus may underlie the molecular genetic deficiency for this PWS patient.