Rygaard K, Revol A, Esquivel-Escobedo D, Beck B L, Barrera-Saldaña H A
Department of Obstetrics and Gynaecology, Frederiksberg Hospital, Denmark.
Hum Genet. 1998 Jan;102(1):87-92. doi: 10.1007/s004390050658.
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.
人胎盘催乳素（HPL）在正常妊娠期间大量产生。我们报告了一例完全缺乏HPL以及人生长激素变体HGH-V胎盘变体的妊娠病例。该妊娠产下一名严重生长发育迟缓但其他方面正常的男婴。对从胎盘中提取的DNA进行PCR分析显示，编码HPL的基因hPL-4和hPL-3与人生长激素变体基因（hGH-V）一起被删除，hGH-V位于这两个活跃的hPL基因之间，并且在正常胎盘中也有表达。在这个多基因家族的五个成员中，在垂体中表达的hGH-N和一个推测的假基因hPL-1保持完整。后者（hPL-1）仅以非常低的水平表达为RNA转录本，这与正常妊娠中的通常报道一致。对父母DNA的分析表明，他们两人在hGH/hPL基因座的3'端都携带不同的杂合缺失。
