Gene diagnosis of facioscapulohumeral muscular dystrophy
10.3760/j.issn:1003-9406.2001.03.013
- VernacularTitle:面肩肱型肌营养不良症的基因诊断
- Author:
Ying ZENG
1
;
Cheng ZHANG
;
Quanxi SU
Author Information
1. Sun Yat-sen University of Medical Sciences
- From:
Chinese Journal of Medical Genetics
2001;18(3):213-215
- CountryChina
- Language:Chinese
-
Abstract:
Objective Perform gene diagnosis for Chinese facioscapulohumeral muscular dystrophy(FSHD). Methods Digest genome DNA with restriction enzymes EcoRⅠ only and EcoRⅠ associated with BlnⅠ. Use 0.6% agarose gel electrophoresis and Southern blotting hybridization with probe P13E11. Results For FSHD patients, the sizes of EcoRⅠ+BlnⅠ/P13E11 DNA fragments ranged from 15kb to 33kb. For normal controls, they were over 41kb. Two presymptomatic patients were found. Conclusion It is feasible to perform gene diagnosis and presymptomatic diagnosis for most Chinese FSHD patients by Southern blotting hybridization with probe P13E11, following double digestion of genome DNA with restriction enzymes EcoRⅠ and BlnⅠ.
