Frequency of heterozygous complete hydatidiform moles, estimated by locus-specific minisatellite and Y chromosome-specific probes

Hum Genet. 1989 Jun;82(3):259-63. doi: 10.1007/BF00291166.

Abstract

Restriction fragment length polymorphisms identified with three locus-specific minisatellite probes and banding patterns with Y chromosome-specific probes have been examined in 39 cases of complete hydatidiform mole (CHM) and the parents. All 39 cases were shown to be androgenetic. Of the 39 cases, 8 were identified as heterozygous CHM using the minisatellite probes. Estimates for the total number of heterozygous CHM in the series ranged from 23%-29%, higher than previously reported. Of the eight identified heterozygous CHM, six had Y chromosome-specific sequences whereas two were female; this is not significantly different from the 2:1 ratio expected. The low frequency of 46,XX heterozygous CHM in the literature may reflect difficulties in distinguishing them from 46,XX homozygous CHM. Examination of RFLPs with a small panel of locus-specific minisatellite probes provides a powerful method of classifying hydatidiform mole, enabling the rare heterozygous 46,XX CHM to be accurately identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Probes
  • DNA, Satellite / genetics
  • Female
  • Heterozygote*
  • Humans
  • Hydatidiform Mole / genetics*
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Restriction Mapping
  • Y Chromosome*

Substances

  • DNA Probes
  • DNA, Satellite