[一个患有成人发作的球状细胞白血病的病例的遗传分析]
Wenwen Liang1, Zhou Zhu, Yongkang Fang
1Department of Neurology, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China. fangyongkang1213@163.com.
概括
这项研究确定了GALC基因中的复合异合体变异体,该变异体存在于患有成年开始的克拉贝病 (KD) 的患者中,其特点是步态问题和神经异常. 遗传分析证实了这种罕见的白血病的病因.
科学领域:
- 神经遗传学 神经遗传学
- 溶酶体储存障碍 溶酶体储存障碍
- 神经学 神经学
背景情况:
- 成人发病的克拉贝病 (KD) 是一种罕见的,进展性神经退行性疾病.
- 它的特点是由于酶β-状脑化酶 (GALC) 缺乏而导致脱化.
- 在GALC基因中的遗传变异是Krabbe病的主要原因.
相关概念视频
Genetic Lingo
102.8K
Overview
102.8K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K


