title: Use of routinely collected amniotic fluid for whole-genome expression analysis of polygenic disorders.
abstract: BACKGROUND
  Neural tube defects related to polygenic disorders are the second most common birth defects in the world, but no molecular biologic tests are available to analyze the genes involved in the pathomechanism of these disorders. We explored the use of routinely collected amniotic fluid to characterize the differential gene expression profiles of polygenic disorders.
  
  
  METHODS
  We used oligonucleotide microarrays to analyze amniotic fluid samples obtained from pregnant women carrying fetuses with neural tube defects diagnosed during ultrasound examination. The control samples were obtained from pregnant women who underwent routine genetic amniocentesis because of advanced maternal age (>35 years). We also investigated specific folate-related genes because maternal periconceptional folic acid supplementation has been found to have a protective effect with respect to neural tube defects.
  
  
  RESULTS
  Fetal mRNA from amniocytes was successfully isolated, amplified, labeled, and hybridized to whole-genome transcript arrays. We detected differential gene expression profiles between cases and controls. Highlighted genes such as SLA, LST1, and BENE might be important in the development of neural tube defects. None of the specific folate-related genes were in the top 100 associated transcripts.
  
  
  CONCLUSIONS
  This pilot study demonstrated that a routinely collected amount of amniotic fluid (as small as 6 mL) can provide sufficient RNA to successfully hybridize to expression arrays. Analysis of the differences in fetal gene expressions might help us decipher the complex genetic background of polygenic disorders.
authors.affiliation: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. nagygyr@noi1.sote.hu
authors.forename: Gyula Richárd
authors.initials: GR
authors.lastname: Nagy
authors.forename: Balázs
authors.initials: B
authors.lastname: Gyõrffy
authors.forename: Orsolya
authors.initials: O
authors.lastname: Galamb
authors.forename: Béla
authors.initials: B
authors.lastname: Molnár
authors.forename: Bálint
authors.initials: B
authors.lastname: Nagy
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Papp
mesh_terms: D000653:Amniotic Fluid; D005260:Female; D016678:Genome / Q000235:genetics*; D006801:Humans; D020412:Multifactorial Inheritance / Q000235:genetics*; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D020411:Oligonucleotide Array Sequence Analysis; D010865:Pilot Projects; D011247:Pregnancy; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger