title: [Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region].
abstract: OBJECTIVE
  Spinal muscular atrophy (SMA) is a common and fatal autosomal recessive disorder. Approximately 94% of SMA patients are caused by homozygous deletion of SMN1 gene. SMA carrier screening is recommended considering the high carrier frequency (1 in 35-50) as well as severity of the disease.
  
  
  METHODS
  A prospective population-based cohort study was carried out on 4719 pregnant women from Shanghai region. Copy numbers of SMN1 and SMN2 genes were effectively determined with denaturing high performance liquid chromatography (DHPLC) technique. The method has detected 94% of SMA cases with deletion or conversion of the SMN1 genes.
  
  
  RESULTS
  Ninety SMA carriers with only one copy of the SMN1 gene were identified among the 4719 pregnant woman. The carrier rate was 1.9%. Respectively, 1.2% and 0.6% of the carriers were caused by SMN1 gene deletion and SMN1 gene conversion.
  
  
  CONCLUSIONS
  Through this study, we have determined the frequency of SMA mutation carriers in a population of pregnant women. The result may provide a basis for genetic counseling in order to reduce the rate of SMA affected births.
authors: Shanghai Changning Maternity and Infant Health Hospital, Shanghai 200051, P.R. China. Yuing_0917@hotmail.com.
authors: Bo
authors: B
authors: Gong
authors: Li
authors: L
authors: Zhang
authors: Ya-ping
authors: YP
authors: Hou
authors: He-yu
authors: HY
authors: Hu
authors: Hai-chuan
authors: HC
authors: Li
authors: Mei-yu
authors: MY
authors: Tan
authors: Jin
authors: J
authors: Chen
authors: Jing
authors: J
authors: Yu
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D011446:Prospective Studies; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics; D055815:Young Adult
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein