ABSENCE OF HUMAN PLACENTAL-LACTOGEN AND PLACENTAL GROWTH-HORMONE (HGH-V) DURING PREGNANCY - PCR ANALYSIS OF THE DELETION

Human placental lactogen (HPL) is produced in large amounts in normal pregnancies. We report a pregnancy with complete lack of HPL and the p lacental variant of the human growth hormone HGH-V, The pregnancy resu lted in a severely growth-retarded but otherwise normal male baby. PCR analysis of DNA extracted from the placenta showed that the HPL encod ing genes hPL-4 and hPL-3 were deleted along with the human growth hor mone variant gene (hGH-V), which is located between these two active h PL genes and also expressed in the normal placenta. Of the five member s of this multigene family, hGH-N, which is expressed in the pituitary gland, and hPL-1, a presumed pseudogene, were left intact. The latter (hPL-1) was expressed as RNA transcripts only at very low levels as i s usually reported in normal pregnancies. Analysis of the parents' DNA showed that both of them carried a different heterozygous deletion at the 3' end of the hGH/hPL locus.