查看更多>>摘要：目的 对1例病因不明、发育迟缓、特殊面容的患者进行基因检测，以明确其遗传学病因。 方法 选取2021年5月27日因"婚后10个月夫妻同居、未避孕不孕"就诊于甘肃省妇幼保健院的1例患者为研究对象。收集患者的临床资料，提取患者及其父母的外周血DNA，进行全外显子组测序(WES)，对候选致病变异进行Sanger测序家系验证。 结果 患者1p36.33p36.32区检测出2.54 Mb的杂合缺失，CHD3基因检测出c.1123G>C(p.E375Q)杂合变异，其父母均未携带上述变异。 结论 本研究确诊了1例染色体1p36缺失综合征合并Snijders Blok-Campeau综合征患者，为患者的遗传咨询提供了依据。 Objective To explore the genetic basis for a patient with unexplained developmental delay and special facial features. Methods A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. Results The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of theCHD3 gene, neither of which was detected in his parents. Conclusion The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
查看更多>>摘要：mRNA药物近年来在治疗遗传性疾病方面显示出巨大的潜力，吸引了众多研究者的关注。综述回顾过去10年mRNA药物在遗传性疾病治疗领域的研究进展，探讨其作用机制和结构设计，并重点探讨了mRNA药物在替代疗法中所表现出的众多优势，如高特异性、低给药剂量、持续表达等，同时针对mRNA药物有效递送、储存方法等难题展开讨论，以期为后续的研究提供指引。 In recent years, mRNA drugs have shown a great potential for the treatment of genetic diseases and attracted the attention of many researchers. This article has reviewed the advance in the research of mRNA drugs for the treatment of genetic diseases over the past 30 years, including their mechanisms of action and structure design, with a focus on their advantages as alternative therapies such as high specificity, low dosage, and sustained expression. Meanwhile, challenges for the effective delivery and storage methods for the mRNA drugs are discussed, with an aim to provide guidance for subsequent researches.
查看更多>>摘要：遗传学研究进入后基因组时代以来，语言障碍的高遗传度已被证实。多种基因相关疾病均可能导致成人或儿童表现出不同程度的语言障碍。综述探讨了近十年来发现的较为常见的语言障碍疾病及其生物学机制，梳理了阅读障碍、额颞叶变性、特定型语言障碍、儿童言语失用症等与语言障碍密切相关的单一疾病的基因研究，以及对多种疾病共同的基因的探讨，以期揭示语言障碍的基因关联或致病机理，为语言障碍的预防及诊疗提供线索。 Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders. It also provided a discussion over the co-occurrence of multiple diseases, with an aim to revealing the genetic association and/or pathogenetic mechanism in order to provide inspiration for the prevention, diagnosis, and treatment of language disorders.
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