Gene loss in human teratomas.

If benign cystic teratomas (dermoid cysts) of the ovary arise from a germ cell that has undergone meiosis, they should be missing genes which are present in the person. Three independently segregating allelic isozymes in 11 benign cystic teratomas of the human female ovary were compared with normal tissue of the same case. Dermoid cysts from persons heterozygous for these isozymes are frequently homozygous for that particular gene product. One of two dermoid cysts is homozygous for glucose-6-phosphate dehydrogenase, two of four tumors are homozygous for phosphoglucomutase at the PGM(1) locus, and two (or more) of eight tumors are homozygous for phosphoglucomutase at the PGM(3) locus in women heterozygous for these allelic isozymes. These findings are consistent with the hypothesis that these tumors arise from a germ cell which has undergone meiosis with varying degrees of crossing-over.