Home    About Us    Medic-All    Bio B2B    Hot Topic     Expo     Login | Join Now          
Bio B2BSofiva Genomics 〉Quantitative analysis of SMN1 and SMN2 genes based on DHPLC

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC

DHPLC is a rapid, simple, and highly reliable method for detecting the SMN1 deletion/conversion and for determining the copy numbers of the SMN1 and SMN2 genes to detection of carriers of SMA.

Request for Collaboration
Overview
Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 95% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We develop a rapid, simple, and highly reliable method for detecting the SMN1 deletion/conversion and for determining the copy numbers of the SMN1 and SMN2 genes by DHPLC. We analyzed SMN1/SMN2 gene exon 7 deletion/conversion by DHPLC. A total of 25 patients with spinal muscular atrophy lacking the SMN1 gene as well as 309 control individuals from the general population and the family members of patients with SMA were analyzed. By DHPLC analysis, we could detect the SMA-affected cases efficiently just by recognizing an SMN2-only peak. Furthermore, after specific primer amplification and adjustment of the oven temperature, all of the SMA carriers with an SMN1/SMN2 ratio not equal to 1 could be identified unambiguously by this simple and efficient detection system. To calculate the total SMN1/SMN2 gene dosages further, we developed a specific multiplex competitive PCR protocol by simultaneously amplifying the CYBB gene (X-linked), the KRIT1 gene (on chromosome arm 7q), and the SMN1/SMN2 gene ratio by DHPLC. By applying this technique, we could successfully designate all of the genotypes with different SMN1/SMN2 gene copy numbers, including equal and unequal amounts of SMN1 and SMN2. We demonstrated that DHPLC is a fast and reliable tool for detection of carriers of SMA.
Application
1. Carriers of SMA screening. Because SMA is one of the most common lethal genetic disorders, with a carrier frequency of 1/35 to 1/50, it is important to identify carriers of the SMN1 absence for diagnostic and genetic counseling.

2. SMA-affected cases molecular test.
More Information
People who like this also like
  • New Chemical Entities - NCENew Chemical Entities - NCE
  • Patented CMx® PlatformPatented CMx® Platform
  • PHDC-02PHDC-02
  • Zwitterionic interface processing technologyZwitterionic interface processing technology
  • PHN031 (Osteoporosis prevention)PHN031 (Osteoporosis prevention)
  • Non-invasive Fiber Optic Physiological Monitoring TechnologyNon-invasive Fiber Optic Physiological Monitoring Technology
  • PHN015 (Hemorrhage stroke)PHN015 (Hemorrhage stroke)
  • Atomoxetine HCl Atomoxetine HCl 
  • Platform_Antibody-Linked NanomedicinesPlatform_Antibody-Linked Nanomedicines
  • Small Molecule DrugsSmall Molecule Drugs