Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
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DOI：
10.1093/hmg/5.4.517
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发表时间：
1996-04-01
影响因子：
3.5
通讯作者：
Palmer, CG
中科院分区：
文献类型：
--
作者：
Sun, YM;Nicholls, RD;Palmer, CG
1例Prader-Willi综合征（PWS）患者发生了从头平衡易位t（15;19）（q12;q13.41），该易位破坏了核内小核糖核蛋白N（SNRPN）基因座。易位断裂点位于SNRPN基因的第二外显子和第三外显子之间，位于SmN开放阅读框（ORF）之外，完整。RT-PCR检测到ZNF 127、IPW、PAR-1和PAR-5基因在患者成纤维细胞中的转录活性，提示这些基因在患者PWS表型中可能不起重要作用。用RT-PCR也检测到SNRPN基因的前两个外显子和后七个外显子的转录;然而，未检测到完整的mRNA（10个外显子），因此，患者中的PWS表型可能是SNRPN基因座破坏的结果。
A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal translocation, t(15;19)(q12;q13.41), which disrupted the small nuclear ribonucleoprotein N (SNRPN) locus. The translocation chromosome 15 was found to be paternal in origin, Uniparental disomy and abnormal DNA methylation were ruled out, The translocation breakpoint was found to have occurred between exon 0 (second exon) and 1 (third exon) of the SNRPN locus outside of the SmN open reading frame (ORF), which is intact. The transcriptional activities of ZNF127, IPW, PAR-1, and PAR-5 were detected with RT-PCR from fibroblasts of the patient, suggesting that these genes may not play a significant role in the PWS phenotype in this patient. Transcription from the first two exons and last seven exons of the SNRPN gene was also detected with RT-PCR; however, the complete mRNA (10 exons) was not detected, Thus, the PWS phenotype in the patient is likely to be the result of disruption of the SNRPN locus.