›› 2010, Vol. 30 ›› Issue (6): 707-.

• Original article (Clinical research) • Previous Articles     Next Articles

Selection of short tandem repeats and their application in linkage analysis for prenatal diagnosis of spinal muscular atrophy

SUN Wei, SHEN Jia-wei, LONG Fei, JI Xing, YANG Zu-jing, TAO Jiong   

  1. Prenatal Diagnosis Center, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China
  • Online:2010-06-25 Published:2010-06-28
  • Supported by:

    Shanghai Pujiang Program, 05PJ14062；Shanghai Science and Technology Committee Medical Department Key Program, 054119513

PDF (PC)

1593

Abstract:

Objective To establish a solid prenatal genetic diagnosis system for spinal muscular atrophy (SMA) in Chinese Han populations. Methods Gene polymorphism analysis was conducted with peripheral blood samples of 30 Chinese Han normal people, and polymorphic informative content of short tandem repeats (STR) loci linking to survival motor neuron gene 1(SMN1) was assessed. Appropriate STR loci were selected by linkage analysis of prenatal diagnosis of 6 Chinese SMA families, and PCR-restriction fragment length polymorphism (PCR-RFLP) assay was employed to evaluate the linkage between STR loci and SMN1. Results Four out of the 7 STR loci, D5S435, D5S629, D5S610 and D5S351 were selected for linkage analysis, and 2 affected fetuses and 4 carriers were detected in 6 SMA families with PCR-RFLP assay. Conclusion A solid and reliable SMA prenatal diagnosis system is established, which combines PCR-RFLP assay with linkage analysis using 4 selected STR loci suitable for Chinese Han populations.

Key words: spinal muscular atrophy, short tandem repeats, linkage analysis, prenatal diagnosis