[多种基因技术在普拉德-威利综合征诊断中的应用]
[Application of various genetic techniques for the diagnosis of Prader-Willi syndrome].
作者信息
Huang Wuyan, Li Shuna, Luo Huayu, Wen Xiangshu, Lin Cui, Chen Shuxia, Zhao Liping, Xiao Gefei
机构信息
Institute of Medical Genetics, Zhuhai Municipal Maternal and Child Health Care Hospital, Zhuhai, Guangdong 519001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):875-878. doi: 10.3760/cma.j.issn.1003-9406.2020.08.017.
OBJECTIVE
To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation.
METHODS
The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out.
RESULTS
Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR.
CONCLUSION
Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.
目的
探讨各种分子遗传学技术在诊断两名全面发育迟缓婴儿中的优势及技术局限性。
方法
对两名患者首先采用染色体微阵列分析（CMA）进行筛查。对于患者1，其父母也进行了CMA分析，并使用ChAS和UPD-tool软件对数据进行分析。对于患者2，进行了甲基化特异性PCR（MS-PCR）。
结果
通过CMA和UPD-tool家族分析，患者1被诊断为母源单亲二倍体（UPD）型普拉德-威利综合征（PWS）。其15号染色体为母源UPD，存在同源性/异源性。患者2通过CMA和MS-PCR联合诊断为缺失型PWS。
结论
根据各种分子技术的优势和局限性正确选择实验室方法，有助于诊断基因组印记障碍，并通过早期干预实现更好的治疗和预后。
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