ABSTRACT
This study was conducted to assess the value of DNA diagnosis of gestational trophoblastic disease using polymerase chain reaction method. The 3 genetic loci including a variable number of tandem repeats regions were amplified by the PCR method on DNA of lymphocytes separated from the peripheral blood of the 53 uterine myoma patients. The distribution ranges of the APOB/VNTR, COL2A1/VNTR and MCT 118/VNTR were 691~850 bp, 651~720 bp and 501~720 bp respectively. The heterozygosity indices of the APOB/VNTR, COL2A1/VNTR and MCT 118/VNTR were 66.0%, 64.2% and 67.9% respectively. The author used the hypervariable 3' flanking region of the APOB/VNTR locus as target for DNA diagnosis of gestational trophoblastic disease. In 12 cases of hydatidiform mole, 1 case of invasive mole, and 1 case of choriocaricinoma, the target locus was amplified by the PCR method on DNA from lymphocytes of patients and their husbands, on DNA from the tisues. 10 cases of hydatidiform mole revealed DNA segments unique to the paternal APOB allele showing androgenesis. Two of theses androgenetic hydatidiform noles were heterozygous and the others were homozygous. A case of invasive mole showed normal genetic combination and a case of choriocarcinoma showed homozygosity. The heterozygous hydatidifomr moles as well as the homozygous ydatidiform moles were good in prognosis. The PCR method for targeting the APOB/VNTR appeared useful for the early diagnosis of hydatidiform mole.