title: [Gene diagnosis for spinal muscular atrophy and its application study].
abstract: OBJECTIVE
  To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).
  
  
  METHODS
  Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.
  
  
  RESULTS
  Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.
  
  
  CONCLUSIONS
  PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.
authors.affiliation: Department of Medical Genetics, China Medical University, and The Second Affiliated Hospital, Shenyang, Liaoning, 110001 PR China.
authors.forename: Dong-hua
authors.initials: DH
authors.lastname: Cao
authors.forename: Mei-hong
authors.initials: MH
authors.lastname: Ren
authors.forename: Chang-kun
authors.initials: CK
authors.lastname: Lin
authors.forename: Wan-ting
authors.initials: WT
authors.lastname: Cui
authors.forename: Hong-wei
authors.initials: HW
authors.lastname: Ma
authors.forename: Ying-yu
authors.initials: YY
authors.lastname: Wu
authors.forename: Chun-lian
authors.initials: CL
authors.lastname: Jin
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055532:SMN Complex Proteins / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein