title: Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.
abstract: OBJECTIVE
  To test the hypothesis that mutations of SYCP3 encoding synaptonemal complex protein 3, result in increased frequency of aneuploidies in humans.
  
  
  METHODS
  Mutation analysis of the PCR-amplified 8 coding exons and exon-intron boundaries of the SYCP3 gene was done by direct sequencing of DNA isolated from 35 aneuploid fetuses of women having a potentially increased likelihood for an underlying genetic predisposition for chromosomal non-disjunction.
  
  
  RESULTS
  Based on the results of conventional karyotyping, the 35 aneuploid fetuses of 33 women were divided into separate groups: 9 aneuploid conceptuses of couples with recurrent aneuploid conceptions (4 of the women 35 years or younger), 12 conceptuses with double/multiple aneuploidies (5 of the women 35 years or younger), and 14 conceptuses with single aneuploidies of women younger than 35 years (8 trisomies and 6 monosomies). No pathogenic mutations in the SYCP3 coding exons and the immediately flanking intronic sequences were found.
  
  
  CONCLUSIONS
  Under the assumption that genetic predisposition for chromosomal non-disjunction leading to aneuploidy is most likely polygenic in nature, our data suggest that SYCP3 mutations are not one of the common causes in humans.
authors.affiliation: Institute of Human Genetics, University Hospital RWTH Aachen, 52074, Aachen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Roos
authors.forename: Constantin S
authors.initials: CS
authors.lastname: von Kaisenberg
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Gesa
authors.initials: G
authors.lastname: Schwanitz
authors.forename: Christine
authors.initials: C
authors.lastname: Löffler
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Annelore
authors.initials: A
authors.lastname: Junge
authors.forename: Almuth
authors.initials: A
authors.lastname: Caliebe
authors.forename: Britta
authors.initials: B
authors.lastname: Belitz
authors.forename: Monika
authors.initials: M
authors.lastname: Kautza
authors.forename: Herdit
authors.initials: H
authors.lastname: Schüler
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Simone
authors.initials: S
authors.lastname: Heidemann
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D000782:Aneuploidy; D018797:Cell Cycle Proteins; D002824:Chorionic Villi / Q000737:chemistry; D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D005333:Fetus / Q000737:chemistry; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C490060:SYCP3 protein, human; D004247:DNA