Prader-Willi综合征分子分型诊断方法的初步研究

A Preliminary Study of Molecular Diagnostics in Prader-Willi Syndrome

【目的】探讨Prader-Willi综合征(PWS)的短串联重复序列(STR)连锁分析诊断方法,为遗传咨询提供相关信息。【方法】对一例临床疑似病例经甲基化特异性PCR(MS-PCR)确诊为PWS后,应用15号染色体特定区域的STR进行家系连锁分析,探讨其在PWS分子缺陷类型诊断方面的可行性。【结果】STR连锁分析结果显示该患者为父源缺失型PWS。【结论】STR连锁分析是一种可准确诊断PWS并明确其分子缺陷类型的好方法;国人相关区域的STR位点及其多态信息等有待进一步研究,以完善并最终建立该方法。

[ Objective ] The purpose of this research was to apply the molecular diagnostics to Chinese Prader-Willi Syndrome （PWS） patient, and finally provide genetic counseling to PWS families. [Methods] In addition to methylation-special PCR （MS- PCR）, a new method of linkage analysis by six short tandem repeat（STR） was used to detect the molecular genetic defect of one Chinese PWS case. [Result] This patient could be dialnosed as PWS by Methylation-special PCR and STR linkage analysis. Also, the linkage analysis revealed that the patient had the paternal deletion of 15q11-q13. [Conclusion] This STR linkage analysis can identify the molecular defect of PWS cases quickly and accurately. With more STR loci analyzed and their polymorphism information content obtained, this linkage analysis method could be better developed and become a potential diagnostics in PWS cases.