...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >Application of single-sperm sequencing in a male with Marfan syndrome: a case report and a literature review
【24h】

Application of single-sperm sequencing in a male with Marfan syndrome: a case report and a literature review

机译：单颗粒测序在雄性综合征的阳性中的应用 - 案例报告及文献综述

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Marfan syndrome (MFS) is caused by a FBN1 mutation. Many organ systems are affected in patients with MFS, including the skeletal, ocular, cardiovascular and pulmonary systems. Cardiovascular manifestations are the main cause of mortality in patients with MFS. The mode of inheritance of MFS is autosomal dominant inheritance and the offspring are at great risk for the disease. Thus, the genetic testing for monogenic disease during preimplantation (PGT-M) is routinely advised for patients with MFS. PGT-M is a clinical genetic method to obtain normal embryos which are not affected by the monogenetic disorder. However, allele drop out (ADO) typically results in misdiagnosis during the PGT-M in the autosomal dominant disorder. Thus, a linkage analysis of polymorphic sites is used to identify ADO and improve the accuracy of PGT-M. However, when there are no family members affected, or the patients carry a de novo mutation, a linkage analysis cannot be performed to position the abnormal chromatid. Here, we performed single-sperm sequencing of preimplantation genetic testing in a male patient with MFS with a de novo mutation in FBN1 . We constructed the chromosomal haplotype of the male patient by analysing information at the mutation site and at polymorphic sites. Next, the normal embryos were selected based on the results of high-throughput sequencing and haplotyping, and the one frozen embryo was transferred to the uterus. Finally, the pre-implantation genetic testing results were confirmed by the prenatal genetic diagnosis during pregnancy, which showed that the foetus did not carry the pathogenic mutation. In conclusion, our research showed that single-sperm sequencing and haplotype analysis can be used in male patients with monogenetic disorders caused by de novo mutations to improve the accuracy of the preimplantation genetic diagnosis.
机译：Marfan综合症（MFS）是由FBN1突变引起的。许多器官系统受MFS患者的影响，包括骨骼，眼镜，心血管和肺系统。心血管表现是MFS患者死亡率的主要原因。 MFS的遗传模式是常染色体显性遗传，后代对这种疾病的风险很大。因此，对MFS患者常规建议在预致病期间（PGT-M）期间的单一型疾病的遗传测试。 PGT-M是一种临床遗传方法，用于获得不受单一的疾病影响的正常胚胎。然而，等位基因丢弃（ADO）通常导致常染色体显性疾病中PGT-M期间的误诊。因此，多晶型位点的连杆分析用于鉴定ADO并提高PGT-M的精度。然而，当没有受到家庭成员的影响时，或者患者携带DE Novo突变时，不能进行连杆分析以定位异常的染色体。在这里，我们在FBN1中的具有De Novo突变的MFS中对雄性患者进行了单方面序列测序。通过在突变位点和多晶位点分析信息来构建母患者的染色体单倍型。接下来，基于高通量测序和单倍分型的结果选择正常胚胎，并将一个冷冻胚胎转移到子宫内。最后，妊娠期间产前遗传诊断证实了预植入遗传检测结果，表明胎儿没有携带致病性突变。总之，我们的研究表明，单片药物测序和单倍型分析可用于由De Novo突变引起的单一的单一疾病患者，以提高预溶解遗传诊断的准确性。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号