PCR-RFLP in gene diagnosis of spinal muscular atrophy
- VernacularTitle:聚合酶链反应-限制性片段长度多态性分析技术在儿童型脊髓性肌萎缩症基因诊断中的应用
- Author:
Zhiguo WU
;
Bo XIAO
;
Xiaosu YANG
;
Lifang ZHANG
;
Jinghui LIANG
- Publication Type:Journal Article
- Keywords:
Muscular atrophy, spinal;
Polymerase chain reaction;
Polymorphism, restriction fragment length
- From:
Chinese Journal of Neurology
1999;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the value of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in gene diagnosis on spinal muscular atrophy (SMA).Methods PCR-RFLP method was used to detect the homozygous deletion of the exon 7 or exon 8 of SMN gene in 20 SMA patients of Type Ⅰ,Ⅱ,Ⅲ and 15 normal individuals.Results Homozygous deletion of exon 7 and exon 8 of the SMN gene were all identified 7/7 in SMA TypeⅠpatients, and 5/5 and 4/5 respectively in SMA Type Ⅱ patients, but only 1/8 of SMA Type Ⅲ patients, and no homozygous deletion was found in the normal controls.Conclusions PCR-RFLP might be recommended as an effective diagnosis for spinal muscular atrophy Type Ⅰand Ⅱ patients, whereas the method might not be as useful in Type Ⅲ as in Type Ⅰand Ⅱ for the gene diagnosis.
