Human Genetics

, Volume 82, Issue 3, pp 259–263

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

  • Rosemary A. Fisher
  • Susan Povey
  • Alec J. Jeffreys
  • Clare A. Martin
  • Ilaben Patel
  • Sylvia D. Lawler
Original Investigations

DOI: 10.1007/BF00291166

Cite this article as:
Fisher, R.A., Povey, S., Jeffreys, A.J. et al. Hum Genet (1989) 82: 259. doi:10.1007/BF00291166
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Summary

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.

Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Rosemary A. Fisher
    • 1
    • 2
  • Susan Povey
    • 3
  • Alec J. Jeffreys
    • 4
  • Clare A. Martin
    • 1
    • 2
  • Ilaben Patel
    • 4
  • Sylvia D. Lawler
    • 1
    • 2
  1. 1.Institute of Cancer ResearchLondonUK
  2. 2.The Royal Marsden HospitalLondonUK
  3. 3.MRC Human Biochemical Genetics UnitUniversity CollegeLondonUK
  4. 4.Department of GeneticsUniversity of LeicesterLeicesterUK
  5. 5.Haddow LaboratoriesInstitute of Cancer ResearchBelmontUK