Brackertz M
Geburtshilfe Frauenheilkd. 1983 Jul;43(7):461-8. doi: 10.1055/s-2008-1036557.
Newer genetic investigations show that the complete or classical hydatidiform mole has in over 90% of the cases a diploid female set of chromosomes which is exclusively of paternal origin. The 23 X sperm genom is doubled and the nucleus of the ovocyte is degenerated. In contradistinction the nucleus of the ovocyte persists in partial moles. The normal ontogenesis is also disturbed by a preponderance of paternal genetic material. By melting of 2 instead of 1 paternal germ cell (Dispermia) the genom of partial moles is to 1/3 of maternal and to 2/3 of paternal origin. The triploid set of chromosomes shows usually 69xxy. Whereas the potential of malignancy of partial moles is low a choriocarcinoma results from 2 to 10% of the complete moles. Responsible maybe recessive hereditary mutations of growth controlling genes, which are present in complete moles in a homozygote form due to the doubling of a single paternal set of chromosomes. Total absence of the growth controlling loci of these genes maternally permits an unhibited expression of the growth controlling paternal genes.
最新的基因研究表明,在超过90%的病例中,完全性或典型性葡萄胎具有二倍体女性染色体组,且完全源自父方。23,X精子基因组加倍,卵母细胞核退化。相反,卵母细胞核在部分性葡萄胎中持续存在。正常个体发育也因父方遗传物质占优势而受到干扰。通过融合2个而非1个父方生殖细胞(双精子受精),部分性葡萄胎的基因组1/3源自母方,2/3源自父方。三倍体染色体组通常显示为69,xxy。部分性葡萄胎的恶变潜能较低,而2%至10%的完全性葡萄胎会发展为绒毛膜癌。其原因可能是生长控制基因的隐性遗传突变,由于单个父方染色体组加倍,这些基因在完全性葡萄胎中以纯合子形式存在。母方这些基因的生长控制位点完全缺失,使得父方生长控制基因得以不受抑制地表达。