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Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test by Yi-Ning Su; Chia-Cheng Hung; Hung Li; Chien-Nan Lee; Wen-Fang Cheng; Po-Nien Tsao; Ming-Cheng Chang; Chia-Li Yu; Wu-Shiun Hsieh; Win-Li Lin; Su-Ming Hsu is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test about?
## Communicated by Graham R. Taylor Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new, 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 mult
Who reads Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Yi-Ning Su; Chia-Cheng Hung; Hung Li; Chien-Nan Lee; Wen-Fang Cheng; Po-Nien Tsao; Ming-Cheng Chang; Chia-Li Yu; Wu-Shiun Hsieh; Win-Li Lin; Su-Ming Hsu
- Publisher
- Hindawi Limited
- Published
- 2005
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)