title: [Application of real-time PCR analysis of the SMN1gene in the carrier testing of spinal muscular atrophy].
abstract: OBJECTIVE
  Spinal muscular atrophy (SMA) is one of common autosomal recessive diseases and is characterized by degeneration of the anterior horn cells of the spinal cord. The reported prevalence is 1/10,000 live births with a carrier rate of one in 50. It is important in genetic counseling to identify the carriers with one copy deletion for the survival motor neuron (SMN(1)) gene. However, the duplication of the SMA locus makes the detection of SMA carriers difficult. This study aimed to determine the potential of the quantitative PCR analysis in the identification of SMA carriers.
  
  
  METHODS
  The SMN(1) gene copy number was detected by realdouble ended arrowtime PCR with TaqMan technology in 109 SMA parents of affected children and 40 normal controls.
  
  
  RESULTS
  The average copy numbers of SMN(1) in the individuals with known one copy of the SMN(1) gene and with the two copies were 0.777 +/-0.035 (CV=4.5%) and 2.064 +/-0.120 (CV= 5.8%) respectively. The average copy number of SMN(1) in all of the parents with affected individuals was 0.798 +/-0.108 (CV=13.5%), and that of normal controls was 2.106 +/-0.18 (CV=8.5%). About 98% of SMA patients' parents carried 1 copy SMN(1), and 95% of normal controls carried 2 copies.
  
  
  CONCLUSIONS
  The gene copy numbers for SMN(1) were one and two for SMA carriers and non-carriers, respectively. Our results suggested that the quantitative PCR analysis can distinguish the SMN(1) deletion carriers from non-carriers.
authors.affiliation: Department of Laboratory Medicine, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Lu
authors.forename: Hong-Wei
authors.initials: HW
authors.lastname: Ma
authors.forename: Jun
authors.initials: J
authors.lastname: Jiang
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Bin
authors.initials: B
authors.lastname: Hu
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012044:Regression Analysis; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins