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目的探讨1例Prader-Willi综合征(Prader-Willi syndrome,PWS)患儿的遗传学诊断及发病机制。方法对患儿的血样本进行染色体核型分析,采用甲基化特异性聚合酶链反应(methylation-specific PCR,MSPCR)及多重连接探针扩增(MS-multiplex ligation-dependent probe amplification,MS-MLPA)技术对患儿的DNA样本进行基因分析。结果该患儿染色体核型45,XY,-5,-15,t(5,15)(q34q13),甲基化特异性PCR(MS-PCR)监测到特异性PWS相关基因的甲基化,确诊该患儿为PWS患者。进一步MS-MLPA证实PWS是由于染色体的平衡易位导致父源性15q11~q13区域的缺失所致。结论细胞分子遗传学实验对PWS的临床诊断以及分子遗传基础的分析都具有积极的作用。
Objective To investigate the genetic diagnosis and pathogenesis of a Prader-Willi syndrome (PWS) in children. Methods The karyotypes of children with blood samples were analyzed by methylation-specific polymerase chain reaction (MSPCR) and multiplex-ligation-dependent probe amplification (MS- MLPA) technology for genetic analysis of children’s DNA samples. Results The chromosomal karyotype 45, XY, -5, -15, t (5,15) (q34q13), methylation-specific PCR (MS- The patient was diagnosed with PWS. Further MS-MLPA confirmed that PWS is due to the loss of the paternal 15q11 ~ q13 region due to the balanced chromosome translocation. Conclusion Cytogenetics experiments have a positive effect on the clinical diagnosis of PWS and the analysis of molecular genetic basis.