Abstract: Objective To expore genetic diagnosis and pathogenesis for one case of Prader-willi syndrome(PWS) patient with chromosomal balance-translocation. Method Chromosome karyotype analysis and methylation-specific polymerase chain reaction (MSPCR) and multiplex ligation-dependent probe amplifi -cation(MS-MLPA) were applied for detecting the genetic disorder and analyzing pathogenesis of patient. Results The result of chromosome karyotype was 45, XY, -5, -15, t (5, 15) (q34q13).The patient was diagnosed with PWS by MS-PCR.Further MS-MLPA comfirmed PWS was due to paternal deletion in 15q11-13 region. Conclusion The cellular and molecular genetics experiments are crucial in the clinical diagnosis and molecular genetic basis of PWS.

Key words: balanced chromosomal translocations, prader-Willi syndrome, methylation-specific PCR, methylation-specific MLPA

摘要： 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。

关键词: 染色体平衡易位, Prader-Willi综合征, 甲基化特异性PCR, 甲基化特异性MLPA