目的对我国NIPBL基因突变的德朗热综合征(Cornelia de Lange syndrome,CdLS)1型患儿进行基因型和表现型分析。方法以知网、万方、PubMed数据库为文献来源,检索建库至2022年9月发表的相关文献。本研究共纳入41例CdLS1型患者,其中1例来自...目的对我国NIPBL基因突变的德朗热综合征(Cornelia de Lange syndrome,CdLS)1型患儿进行基因型和表现型分析。方法以知网、万方、PubMed数据库为文献来源,检索建库至2022年9月发表的相关文献。本研究共纳入41例CdLS1型患者,其中1例来自四川省妇幼保健院儿科个案报道,其余40例均来自文献综述。回顾性分析这41例CdLS1型患者的基因型与表现型特征。结果我国CdLS1型患者临床表现主要为特殊颅面畸形100.0%(41/41)、肢体畸形100.0%(41/41)、智力障碍100.0%(21/21)、矮小症97.1%(33/34),偶有先天性心脏病(5例)、肾囊肿(3例)、隐睾(2例)、腭裂(2例)、癫痫(2例)等表现,尚无合并先天性膈疝病例报道。诊断年龄为生后胎儿期至12岁,产前诊断6.1%(2/33),新生儿期诊断30.3%(10/33)。本研究CdLS1型患儿中移码突变26.8%(11/41)、剪切突变24.4%(10/41)、错义突变22.0%(9/41)、无义突变22.0%(9/41),CdLS1患者基因型与表现型比较结果差异无统计学意义(H=3.005,P=0.391)。结论本研究CdLS1型患者中,经典型80.5%,非经典型14.6%,疑似4.9%,尚未发现基因型与表型相关。总结并分析CdLS1型患者的临床特点和基因分型,可为临床上早期识别和诊断提供参考。展开更多
Objective: To investigate the effect of Lang-chuang-ding Decoction(狼疮定汤, LCD) on the expression of DNA methylation of CD70 gene promoter in peripheral blood mononuclear cells(PBMCs) of females with systemic lupus ...Objective: To investigate the effect of Lang-chuang-ding Decoction(狼疮定汤, LCD) on the expression of DNA methylation of CD70 gene promoter in peripheral blood mononuclear cells(PBMCs) of females with systemic lupus erythematosus(SLE). Methods: PBMCs isolated from female patients with SLE or healthy donors were cultured and treated with LCD medicated serum or normal serum for 24 or 48 h. The m RNA expressions of CD70 gene in PBMCs were detected by reverse transcription polymerase chain reaction(PCR); the DNA methylation of the CD70 gene promoter region was detected by methylation-specific PCR. Results: After treated with medicated serum for 48 h, the m RNA expression levels of CD70 in PBMCs of SLE patients were significantly higher than those of healthy donors(P<0.05); the DNA methylation levels of CD70 promoter region in PBMCs of SLE patients treated with medicated serum for 48 h were significantly higher than those treated with fetal bovine serum(P<0.01). Conclusion: LCD could inhibit CD70 gene expression in PBMCs of SLE patients by promoting the DNA methylation of CD70 gene promoter.展开更多
文摘目的对我国NIPBL基因突变的德朗热综合征(Cornelia de Lange syndrome,CdLS)1型患儿进行基因型和表现型分析。方法以知网、万方、PubMed数据库为文献来源,检索建库至2022年9月发表的相关文献。本研究共纳入41例CdLS1型患者,其中1例来自四川省妇幼保健院儿科个案报道,其余40例均来自文献综述。回顾性分析这41例CdLS1型患者的基因型与表现型特征。结果我国CdLS1型患者临床表现主要为特殊颅面畸形100.0%(41/41)、肢体畸形100.0%(41/41)、智力障碍100.0%(21/21)、矮小症97.1%(33/34),偶有先天性心脏病(5例)、肾囊肿(3例)、隐睾(2例)、腭裂(2例)、癫痫(2例)等表现,尚无合并先天性膈疝病例报道。诊断年龄为生后胎儿期至12岁,产前诊断6.1%(2/33),新生儿期诊断30.3%(10/33)。本研究CdLS1型患儿中移码突变26.8%(11/41)、剪切突变24.4%(10/41)、错义突变22.0%(9/41)、无义突变22.0%(9/41),CdLS1患者基因型与表现型比较结果差异无统计学意义(H=3.005,P=0.391)。结论本研究CdLS1型患者中,经典型80.5%,非经典型14.6%,疑似4.9%,尚未发现基因型与表型相关。总结并分析CdLS1型患者的临床特点和基因分型,可为临床上早期识别和诊断提供参考。
基金Supported by the National Natural Science Foundation of China(No.81373633)the Traditional Chinese Medicine Scientific Research Fund of Zhejiang Province,China(No.2016ZA095)
文摘Objective: To investigate the effect of Lang-chuang-ding Decoction(狼疮定汤, LCD) on the expression of DNA methylation of CD70 gene promoter in peripheral blood mononuclear cells(PBMCs) of females with systemic lupus erythematosus(SLE). Methods: PBMCs isolated from female patients with SLE or healthy donors were cultured and treated with LCD medicated serum or normal serum for 24 or 48 h. The m RNA expressions of CD70 gene in PBMCs were detected by reverse transcription polymerase chain reaction(PCR); the DNA methylation of the CD70 gene promoter region was detected by methylation-specific PCR. Results: After treated with medicated serum for 48 h, the m RNA expression levels of CD70 in PBMCs of SLE patients were significantly higher than those of healthy donors(P<0.05); the DNA methylation levels of CD70 promoter region in PBMCs of SLE patients treated with medicated serum for 48 h were significantly higher than those treated with fetal bovine serum(P<0.01). Conclusion: LCD could inhibit CD70 gene expression in PBMCs of SLE patients by promoting the DNA methylation of CD70 gene promoter.
