Optimization of short tandem repeats and their application in prenatal diagnosis of spinal muscular atrophy
- VernacularTitle:短串联重复序列位点的优选及其在脊髓性肌萎缩症产前诊断中的应用
- Author:
Jun-Fen SU
;
Wan-Jin CHEN
;
Zhi-Ying WU
;
Ning WANG
;
Yu LIN
;
Min-Ting LIN
;
Shenxing MURONG
;
- Publication Type:Journal Article
- Keywords:
Muscular atrophy;
spinal;
Tandem repeat sequences;
Prenatal diagnosis;
Electrophoresis;
polyacrylamide gel
- From:
Chinese Journal of Neurology
2005;0(07):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To optimize the short tandem repeats(STR)which link closely to survival motor neuron(SMN)and have redundant polymorphism information contents,and to use these STR in the prenatal diagnosis of spinal muscular atrophy(SMA).Methods Eleven STR loci(D5S435,D5F153, DSF151,D5S637,D5S1413,D5S125,D5S464,D5S1556,DSF149,D5S351,MAP1B-5')were amplified by PCR.Then the PCR products were detected by polyacrylamide gel electrophoresis(PAGE)and analyzed by silver staining.STR loci were evaluated and optimized by their PIC values.PCR-PAGE and gene scan were combined to make genetic link analysis for SMA families based on the optimized STR.Results Three STR loci(D5S435,DSF149 and D5S351)were selected with 8,19 and 18 polymorphic fragments detected respectively in 100 normal individuals.Their PIC values were 0.84,0.91 and 0.92 respectively.Four carriers and 2 normal individuals were detected from 6 SMA families with linkage analysis by using the 3 STR.Conclusion This genetic diagnosis system based on the 3 STR loci can provide rapid prenatal diagnosis for SMA families,can eliminate maternal blood contamination,and also can discriminate carriers from normal individuals in the fetuses,which makes the prenatal diagnosis system of SMA perfect.
