title: Frequency of heterozygous complete hydatidiform moles, estimated by locus-specific minisatellite and Y chromosome-specific probes.
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.
authors.affiliation: Institute of Cancer Research, London, UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Fisher
authors.forename: S
authors.initials: S
authors.lastname: Povey
authors.forename: A J
authors.initials: AJ
authors.lastname: Jeffreys
authors.forename: C A
authors.initials: CA
authors.lastname: Martin
authors.forename: I
authors.initials: I
authors.lastname: Patel
authors.forename: S D
authors.initials: SD
authors.lastname: Lawler
mesh_terms: D015342:DNA Probes; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D015183:Restriction Mapping; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite