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 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.
Rygaard
K
K
Department of Obstetrics and Gynaecology, Frederiksberg Hospital, Denmark.
Revol
A
A
Esquivel-Escobedo
D
D
Beck
B L
BL
Barrera-Saldaña
H A
HA
D000328:Adult; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010290:Parents; D010920:Placenta / Q000737:chemistry; D010926:Placental Hormones / Q000172:deficiency* / Q000235:genetics*; D010928:Placental Lactogen / Q000172:deficiency* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012333:RNA, Messenger / Q000032:analysis
C064980:GH2 protein, human; D010926:Placental Hormones; D012333:RNA, Messenger; D013006:Growth Hormone; D010928:Placental Lactogen