Nicotra M, Lucarini N, Battista C, Discepoli L, Coghi I M, Bottini E
Int J Fertil. 1982;27(4):229-33.
Theoretical arguments suggest that variation of metabolic parameters due to genetically determined enzyme polymorphisms may exert important effects on implantation and zygote development. The polymorphic enzyme phosphoglucomutase controlled by locus 1 (PGM1) is a phosphotransferase which plays a key role in carbohydrate metabolism and it is present in high concentrations in placental tissue. The enzyme has been studied in 47 couples with habitual abortion, in 36 women with single episodes of spontaneous abortion, in 48 women with induced abortion, and in control samples of normal individuals from the same population. Among couples with habitual abortion a significant increase of mean survival time of fetuses was observed in PGM1-heterozygote mothers as compared to homozygotes. An increased proportion of couples which may produce the hypothetical PGM1-null phenotype was also observed in habitual abortion, which suggests that homozygosity for PGM10 allele may contribute to fetal loss. Investigations on polymorphic enzymes involved in placental and fetal metabolism may contribute significantly to the problem of genetic etiology of spontaneous abortion.
理论观点表明，由基因决定的酶多态性导致的代谢参数变化可能对着床和受精卵发育产生重要影响。由第1位点（PGM1）控制的多态性酶磷酸葡萄糖变位酶是一种磷酸转移酶，在碳水化合物代谢中起关键作用，并且在胎盘组织中浓度很高。该酶已在47对习惯性流产夫妇、36名单发性自然流产女性、48名人工流产女性以及来自同一人群的正常个体对照样本中进行了研究。在习惯性流产夫妇中，与纯合子相比，PGM1杂合子母亲所怀胎儿的平均存活时间显著延长。在习惯性流产中还观察到可能产生假设的PGM1无效表型的夫妇比例增加，这表明PGM10等位基因的纯合性可能导致胎儿丢失。对胎盘和胎儿代谢中涉及的多态性酶的研究可能对自然流产的遗传病因问题有重大贡献。
