The copy number variation analysis of androgenetic hydatidiform mole with high density SNPs array

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Hydatidiform mole (HM) occurs in about 1 in 400 pregnancies in Japan. There are two different HM entities: androgenetic diploid 'complete' hydatidiform mole (CHM) and triploid 'partial' hydatidiform mole (PHM). CHM has a higher risk of GTN than PHM. It has been estimated that 10-30% of CHM develops GTN. However, we cannot predict which cases develop to gestational trophoblastic neoplasia. We applied 8 cases complete moles (CHM) to high density SNPs array of Affymetrix, and analyzed the array data with Affymetrix Genotyping Console and Microsoft Excel. 1) Homozygous CHM assessed with STR polymorphism analysis were confirmed the homozygosity in whole genome level. 2) We found specific regions in CHM. 3) We found two GTN specific region in chromosome 2 and 22.