Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity

Am J Med Genet. 2000 Jun 5;92(4):260-3.

Abstract

Serological and molecular (DNA-STR) analysis of a paternity case demonstrated exclusion of paternity of the presumptive father in two markers (ACP and Apo B, both localized on chromosome 2, region 2p25.2 and 2p23/24, respectively) in a phenotypically normal girl with a normal karyotype 46,XX (by GT-banding). The index of paternity calculated for other serological (seven erythrocyte antigens, six serum protein systems, and seven isozymes, as well as the A- and B-HLA loci) and nine DNA markers, excluding ACP and Apo B, gives a very high (virtually certain) degree of paternity for the presumptive father. Maternal uniparental disomy (UPD) for chromosome 2 was suspected. Evaluation of polymorphic DNA markers (STRs) spanning chromosome 2 of the child, mother, and presumptive father demonstrated that the girl had inherited two maternal chromosome 2 homologues, whereas alleles for markers from other chromosomes were inherited from the father in a Mendelian fashion. The girl was homoallelic for informative markers mapping to the chromosomal regions 2p23-25, but she was heteroallelic for informative markers on the long arm of chromosome 2, establishing that the maternal UPD with partial isodisomy of the short arm was caused by a meiosis I nondisjunction event with genetic recombination (chiasmata in this region 2p23-25) during oogenesis.

Publication types

  • Case Reports

MeSH terms

  • Blood Group Antigens / genetics
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats

Substances

  • Blood Group Antigens
  • Genetic Markers