title: [Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
abstract: OBJECTIVE
  To investigate the type and frequency of gene conversion from SMN1 to SMN2 in Chinese patients affected with spinal muscular atrophy (SMA), and to explore the relationship between gene conversion and clinical phenotype.
  
  
  METHODS
  Non-homozygous deletion of SMN1 gene exon 8 was screened among 417 patients with SMN1 exon 7 homozygous deletions. To analyze and verify the types of gene conversion, genomic DNA sequencing, multiplex ligation-dependent probe amplification (MLPA), and gene subcloning and sequencing were carried out.
  
  
  RESULTS
  Thirty-one patients (7.4% of all) with non-homozygous deletions of SMN1 exon 8 were detected. Through series of experiments, the fusion genes SMN1/SMN2 in all cases were delineated. Five types of gene conversions were identified, which included SMN2-I7b/SMN1 E8, SMN2-I7a/SMN1 I7b, SMN2-E7/SMN1 I7a, SMN1 I6/SMN2 E7/SMN1 I7a and SMN2-E7/SMN1 I7a/SMN2 I7b. Such conversions were found in the type I-III patients. For 10 patients with type I-III SMA and 3 copies of SMN2 gene produced by conversion, the average survival age was 5 year and 4 months.
  
  
  CONCLUSIONS
  Partial conversions of SMN1 gene have been found among Chinese SMA patients. The type of conversion and frequency seem to be different from those of other races. Gene conversion to some extent may impact on survival time and rate of SMA patients, especially type I SMA.
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, People's Republic of China.
authors.forename: Sheng-xi
authors.initials: SX
authors.lastname: He
authors.forename: Xiu-shan
authors.initials: XS
authors.lastname: Ge
authors.forename: Yu-jin
authors.initials: YJ
authors.lastname: Qu
authors.forename: Yu-wei
authors.initials: YW
authors.lastname: Jin
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Bai
authors.forename: Fang
authors.initials: F
authors.lastname: Song
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005785:Gene Conversion; D023061:Gene Order; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics*
chemical_list: D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein