TY - JOUR
T1 - The homozygous complete hydatidiform mole
T2 - A unique resource for genome studies
AU - Taillon-Miller, Patricia
AU - Bauer-Sardiña, Irma
AU - Zakeri, Hamideh
AU - Hillier, La Deana
AU - Mutch, David G.
AU - Kwok, Pui Yan
N1 - Funding Information:
We thank R. Waterston for useful discussion and access to sequence polymorphism data. We thank M. Boyce-Jacino for pooled DNA samples and Q. Li for technical assistance. This research was supported in part by the National Human Genome Research Institute Grant 5 RO1 HG01439.
PY - 1997/12/1
Y1 - 1997/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0031455386&partnerID=8YFLogxK
U2 - 10.1006/geno.1997.5042
DO - 10.1006/geno.1997.5042
M3 - Article
C2 - 9417922
AN - SCOPUS:0031455386
SN - 0888-7543
VL - 46
SP - 307
EP - 310
JO - Genomics
JF - Genomics
IS - 2
ER -