相关实验视频
Updated: Jul 10, 2026

09:40
Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
Published on: January 3, 2015
发展线粒体DNA删除障碍的风险
Patrick F Chinnery1, Salvatore DiMauro, Sara Shanske
1Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. P.F.Chinnery@ncl.ac.uk
Lancet (London, England)
|August 18, 2004
概括
线粒体DNA (mtDNA) 删除障碍不会随着母亲的年龄增加. 受影响的女性有24分之一的风险将mtDNA删除障碍传给他们的后代.
科学领域:
- 遗传学 是一个遗传学.
- 线粒体生物学 线粒体生物学
- 人类疾病 人类疾病
背景情况:
- 致病性线粒体DNA (mtDNA) 突变至少影响8000个个体中的1个.
- 目前,对于mtDNA疾病没有有效的治疗方法,强调了预防疾病的重要性.
- 许多患者有一个单一的致病性mtDNA删除,但新病例和复发的风险因素是未知的.
研究的目的:
- 调查孕产妇年龄与未受影响母亲生育mtDNA删除障碍儿童的风险之间的关系.
- 确定受影响个体的兄弟姐妹和后代中mtDNA删除障碍的复发风险.
主要方法:
- 一项涉及226个家庭的多中心研究,其中一个探针被确定为单个mtDNA删除.
- 包括患有慢性渐进性外部眼,凯恩斯-赛尔综合征或皮尔森综合征的患者.
- 分析了母亲年龄与患病后代的风险之间的关联,并计算了复发风险.
主要成果:
- 没有发现母亲年龄与未受影响母亲生育mtDNA缺失障碍儿童的风险之间的相关性.
- 索引病例的251个兄弟姐妹中没有一个患有mtDNA疾病的临床特征.
- 受影响妇女的后代中复发的风险为4.11% (约24分之一的出生).
结论:
- 与核染色体重排序不同,mtDNA删除障碍的发生率不受母亲年龄的影响.
- 没有受影响的母亲不太可能生一个以上患有mtDNA删除障碍的孩子.
- 受影响妇女患有临床影响后代的风险大约是24分之一,比以前假设的风险更高.
相关概念视频
CRISPR
Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...
DNA Damage can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
Restarting Stalled Replication Forks
DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart, a...
Gene Conversion
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
DNA Damage Can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...

