Prader-Willi syndrome is caused by disruption of the SNRPN gene
Prader-Willi syndrome is caused by disruption of the SNRPN gene
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DOI：
10.1086/302177
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发表时间：
1999-01-01
影响因子：
9.8
通讯作者：
Donlon, TA
中科院分区：
文献类型：
--
作者：
Kuslich, CD;Kobori, JA;Donlon, TA
一个普拉德-威利综合征患者描述谁有一个从头平衡易位，（4;15）（q27;q11.2）帕特，与SNRPN外显子2和3之间的断点。亲本来源的研究表明，没有单亲二体性，也没有明显的缺失。该患者表达ZNF 127、SNRPN外显子1和2、IPW和D15 S227 E（PAR 1），但不表达SNRPN外显子3和4或D15 S226 E（PARS），如通过逆转录PCR检测的外周血细胞。甲基化研究表明，基因座DN 34/ZNF 127，D15 S63和SNRPN外显子1的遗传正常的双亲模式。该患者的结果和Sun等人报道的结果支持以下论点：SNRPN外显子2和3的完整基因组区域和/或转录在Prader-Willi综合征的主要临床表型的表现中起关键作用。
A Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)(q27;q11.2)pat, with breakpoints lying between SNRPN exons 2 and 3. Parental-origin studies indicate that there is no uniparental disomy and no apparent deletion. This patient expresses ZNF127, SNRPN exons 1 and 2, IPW, and D15S227E (PAR1) but does not express either SNRPN exons 3 and 4 or D15S226E (PARS), as assayed by reverse transcription-PCR, of peripheral blood cells. Methylation studies showed normal biparental patterns of inheritance of loci DN34/ZNF127, D15S63, and SNRPN exon 1. Results for this patient and that reported by Sun et al. support the contention that an intact genomic region and/or transcription of SNRPN exons 2 and 3 play a pivotal role in the manifestations of the major clinical phenotype in Prader-Willi syndrome.