在日本,基因变异支持诊断原发性动力障碍症
Minako Hijikata1, Kozo Morimoto2, Masashi Ito2
1Department of Pathophysiology and Host Defense, The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
初级状动力障碍 (PCD) 是一种罕见的遗传疾病,影响状动力. 在日本患者中,DRC1基因的特定缺失被确定为PCD的最常见原因.
科学领域:
- 遗传学 是一个遗传学.
- 呼吸系统医学 呼吸系统医学
- 分子生物学分子生物学
背景情况:
- 初级状动力障碍 (PCD) 是一种罕见的遗传性疾病,影响状动力的功能.
- 在PCD中,粘膜干净度受损导致慢性耳鼻肺部问题.
- 已知超过50个PCD引起的基因,具有特定人群的变异.
研究的目的:
- 为了调查日本患者PCD的遗传原因.
- 为了确定日本人口中常见的PCD引起的变体.
- 分析已识别的变异的功能影响.
主要方法:
- 在150名日本患者中对42个PCD致病基因进行了有针对性的重新测序.
- 对7906个全基因组序列进行生物信息分析,以估计等位基因频率.
- 鼻腔样本的RNA测序,以补充变体分析.
主要成果:
- 在150名患者中,在51名患者中发现了致病或可能致病的变体.
- 最常见的原因 (24名患者) 是DRC1外因1-4的同位素缺失.
- 在日本人群中,这种DRC1删除的等位基因频率估计为0.0034.
结论:
- 在日本,DRC1异构1-4删除是PCD的主要原因.
- 基因检测和人口数据对于诊断PCD至关重要.
- 全球数据积累对于理解PCD遗传学的种族差异至关重要.
更多相关视频
09:03Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
相关概念视频
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Incomplete Dominance
Single Nucleotide Polymorphisms-SNPs
Meiosis I
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
The Movement of Organelles and Vesicles
Cohesins
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
