CAJ | 학술논문

分析一例Prader-Willi综合征的临床表现、基因诊断及相关治疗.对一例临床高度怀疑PWS患者的15q11-q13印迹中心SNRPN基因,外显子α区段中CpG位点进行甲基化特异性聚合酶链反应(MSPCR)扩增,用重亚硫酸盐测序聚合酶链反应(BSPCR)证实;并比较患者在胃袖状切除手术前后的代谢状况.MSPCR提示与正常人比较,患者15q11-q13区域无父源等位基因的扩增产物;BSPCR证实患者SNRPN基因CpG位点完全甲基化;胃袖状切除手术后4个月整体代谢情况和心功能均有改善.MSPCR和BSPCR相互印证可以作为基因诊断PWS的方法,减重手术有望成为此病的主要治疗手段之一.
분석일례Prader-Willi종합정적림상표현、기인진단급상관치료.대일례림상고도부의PWS환자적15q11-q13인적중심SNRPN기인,외현자α구단중CpG위점진행갑기화특이성취합매련반응(MSPCR)확증,용중아류산염측서취합매련반응(BSPCR)증실;병비교환자재위수상절제수술전후적대사상황.MSPCR제시여정상인비교,환자15q11-q13구역무부원등위기인적확증산물;BSPCR증실환자SNRPN기인CpG위점완전갑기화;위수상절제수술후4개월정체대사정황화심공능균유개선.MSPCR화BSPCR상호인증가이작위기인진단PWS적방법,감중수술유망성위차병적주요치료수단지일.
To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.