title: Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.
abstract: OBJECTIVE
  Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA).
  
  
  METHODS
  Thirty-three members of 7 families participated in carrier test and disease detection of SMA. Prenatal genetic diagnosis was performed if both parents were carriers or any family members had SMA. DNA extracted from blood, chorionic villi and amniotic fluid was amplified and used for DHPLC.
  
  
  RESULTS
  Twenty SMA carriers, seven SMA affected cases, and six normal individuals were identified. SMA status was demonstrated by genotyping and total copy number determinations of SMN1 and SMN2. Families 1-3 were classified as group one (SMA affecting previously born child). Group two, comprising families 4 and 5, had lost a child due to an unknown muscular disease. Group three (SMA-affected parent) comprised families 6 and 7; carrier testing was done. DHPLC prenatal genetic diagnosis was made in seven pregnancies, one in each family (affected, n=2; carrier, n=3; normal, n=2). Pregnancy was terminated for the two affected fetuses. The others were delivered uneventfully and SMA free.
  
  
  CONCLUSIONS
  DHPLC prenatal diagnosis of SMA and determination of SMA status in adults is possible, and SMN1 and SMN2 copy numbers can be determined.
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Linkou Medical Center, Taoyuan, Taiwan.
authors: Sheng-Wen
authors: SW
authors: Shaw
authors: Po-Jen
authors: PJ
authors: Cheng
authors: Shuenn-Dhy
authors: SD
authors: Chang
authors: Yu-Ting
authors: YT
authors: Lin
authors: Chia-Cheng
authors: CC
authors: Hung
authors: Chih-Ping
authors: CP
authors: Chen
authors: Yi-Ning
authors: YN
authors: Su
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics* / Q000302:isolation & purification*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000302:isolation & purification*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000302:isolation & purification*; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D004247:DNA