Genetic diagnosis of spinal muscular atrophy
- VernacularTitle:脊髓性肌萎缩症的基因诊断
- Author:
Xinsheng DING
;
Juan YAO
;
Kelian CHEN
- Publication Type:Journal Article
- Keywords:
SMA Genetic diagnosis PCR-RFL P Genetic deletion
- From:
Journal of Clinical Neurology
1997;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
A new method of mismatching PCR-RFL P was performed in our lab in ge- netic diagnosis of spinal muscular atrophy(SMA) and controls.Our data shows:9cases in 1 0 presumed SMA children are positive,i.e. deletion of telomeric SMN gene.One case is negative.2 0 cases of normal familial members and2 0 cases of normal controls are all nega- tive.Our results matches the criteria and reports of foreign countries.The method we used is highly specific,sensitive and useful and is suittable for genetic diagnosis of SMA and its prenatal diagnosis.
