title: [Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene].
abstract: OBJECTIVE
  To screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.
  
  
  METHODS
  Potential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.
  
  
  RESULTS
  All positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.
  
  
  CONCLUSIONS
  Tri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.
authors.affiliation: Medical Division, Xizang Minzu University, Xianyang, Shaanxi 712082, China. dy62@163.com; zhangjf@fmmu.edu.cn.
authors.forename: Sha
authors.initials: S
authors.lastname: Sha
authors.forename: Xue
authors.initials: X
authors.lastname: He
authors.forename: Dongya
authors.initials: D
authors.lastname: Yuan
authors.forename: Jianfang
authors.initials: J
authors.lastname: Zhang
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
mesh_terms: D017931:DNA Primers / Q000235:genetics*; D005260:Female; D005453:Fluorescence; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D017931:DNA Primers; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human