Detection and analysis of dynamic variant in a pedigree affected with spinocerebellar ataxia type 3.
10.3760/cma.j.cn511374-20191225-00662
- VernacularTitle:一个脊髓小脑共济失调3型家系的基因动态变异检测及分析
- Author:
Chen CHEN
1
;
Xuechao ZHAO
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Ataxin-3/genetics*;
Genetic Variation;
Humans;
Machado-Joseph Disease/genetics*;
Pedigree;
Repressor Proteins/genetics*;
Trinucleotide Repeats/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1364-1367
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the dynamic variant and clinical subtype of a pedigree affected with spinocerebellar ataxia (SCA) by using fluorescent-labeled primer combined with capillary electrophoresis.
METHODS:Genomic DNA was extracted from 8 members including 6 patients and 2 healthy individuals from the pedigree. Six pairs of fluorescent-labeled primers were designed to screen pathological variants in association with common subtypes of SCA including SCA1, SCA2, SCA3, SCA6, SCA12 and SCA17.The PCR products were detected by capillary electrophoresis.
RESULTS:The number of CAG repeats in the SCA3 gene of the proband were determined as 8 and 70, exceeded the normal range(12 to 40), which suggested a diagnosis of SCA3. The other five patients were all detected with abnormal CAG repeats in the SCA3 gene, while the two healthy individuals were determined to be within the normal range.
CONCLUSION:The abnormal expansion of CAG repeats in the SCA3 gene probably underlay the pathogenesis of the disease in this pedigree. Combined fluorescent-labeled primers PCR and capillary electrophoresis can detect dynamic variants among SCA patients with efficiency and accuracy.
