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相关概念视频

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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相关实验视频

Updated: Jul 22, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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皮埃尔·罗宾序列中的相关异常.

Claude Stoll1, Y Alembick1, M P Roth1

  • 1Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France.

American journal of medical genetics. Part A
|July 21, 2023
PubMed
概括

皮埃尔·罗宾序列 (PRS) 经常与其他先天性异常发生. 这项研究发现,近70%的PRS病例患有相关疾病,强调了需要对受影响的婴儿进行全面查的需要.

科学领域:

  • 医学遗传学 医学遗传学
  • 发展生物学 发展生物学
  • 儿科医学 儿科医学

背景情况:

  • 皮埃尔·罗宾序列 (PRS) 是一种先天性疾病,其特征是微,光和呼吸道阻塞.
  • PRS经常与一系列其他先天性异常同时发生,尽管在不同研究中,患病率和类型各不相同.
  • 对相关异常的全面了解对于准确诊断和管理PRS至关重要.

研究的目的:

  • 调查与皮埃尔·罗宾序列 (PRS) 相关的先天性异常的类型和患病率.
  • 分析法国东北部一个大规模的以人口为基础的队列中同时出现的疾病的范围.
  • 提供证据支持在PRS病例中对额外异常进行彻底查.

主要方法:

  • 使用基于人口的先天性异常登记册,涵盖了从1979年至2007年的所有妊娠终止,死产和活产.
  • 分析了387,067例出生数据,以确定皮埃尔·罗宾序列 (PRS) 的病例.
  • 确定了PRS和相关的非PRS异常的患病率,包括染色体异常和可识别的综合征.

主要成果:

  • 总共有89例PRS病例被确定,患病率为每10,000例出生的2.29.
  • 近70% (69.7%) 的PRS病例表现出相关的非PRS异常.
关键词:
气道阻塞 气道阻塞 气道阻塞相关的异常情况.裂口口腔的 palatum 是一个口腔的裂口.光灭症 (英语:glossoptosis) 是一种光灭症.微观知觉是什么意思这是一个反转的形.

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Last Updated: Jul 22, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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  • 常见的相关异常包括染色体异常 (11.2%),可识别的综合征 (30.3% - Stickler,Treacher Collins) 和多种先天性异常 (MCA),影响耳朵,脸部,部,心血管和肌肉骨系统.

    • 结论:

    • 皮埃尔·罗宾序列 (PRS) 经常伴随着其他先天异常的重大负担.
    • 相关疾病的高患病率强调了对所有被诊断为PRS的婴儿进行系统和彻底查的必要性.
    • 早期识别并发异常可以导致及时干预和改善患者的治疗结果.