The homozygous complete hydatidiform mole: A unique resource for genome studies

Patricia Taillon-Miller, Irma Bauer-Sardiña, Hamideh Zakeri, La Deana Hillier, David G. Mutch, Pui Yan Kwok

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


The most frequent type of complete hydatidiform mole is a 46, XX homozygote formed by the fertilization of an empty ovum by a single haploid sperm that later duplicates its chromosomes to give a diploid tumor. The homozygous nature of these complete hydatidiform moles makes them unique resources for human genome studies. They can serve as homozygous controls in the development of single nucleotide polymorphism (SNP) markers and provide a way to obtain long-range haplotypes that are useful in population studies. The use of a homozygous control makes it possible to estimate the allele frequencies of the SNIP markers in any population by sequencing pooled DNA samples. In this report, we present evidence of homozygosity of a complete hydatidiform mole using 20 diallelic markers distributed across the genome. Furthermore, its usefulness as a homozygous control in SNP development and as a resource for long-range haplotype determination is demonstrated using 11 newly discovered loci in the BRCA2 region on chromosome 13q12-q13.

Original languageEnglish
Pages (from-to)307-310
Number of pages4
Issue number2
StatePublished - Dec 1 1997


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