Abstract
Human placental lactogen (HPL) is produced in large amounts in normal pregnancies. We report a pregnancy with complete lack of HPL and the placental variant of the human growth hormone HGH-V. The pregnancy resulted in a severely growth-retarded but otherwise normal male baby. PCR analysis of DNA extracted from the placenta showed that the HPL encoding genes hPL-4 and hPL-3 were deleted along with the human growth hormone variant gene (hGH-V), which is located between these two active hPL genes and also expressed in the normal placenta. Of the five members 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 is 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.
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Received: 20 May 1997 / Accepted: 2 September 1997
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Rygaard, K., Revol, A., Esquivel-Escobedo, D. et al. Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion. Hum Genet 102, 87–92 (1998). https://doi.org/10.1007/s004390050658
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DOI: https://doi.org/10.1007/s004390050658