Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia
Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia
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妊娠早期β与γ合成的关系：地中海贫血产前诊断方法
DOI：
10.1203/00006450-197405000-00004
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发表时间：
1974
影响因子：
3.6
通讯作者：
F. Frigoletto
中科院分区：
文献类型：
--
作者：
G. Cividalli;D. Nathan;Y. Kan;Bernardo Santamarina;F. Frigoletto
浸提液：在子宫切开术中获得的洗涤过的胎儿红细胞与14 C-或（H）亮氨酸孵育2小时，通过对标准技术的微小改进，在8 M尿素柱上实现βA和βs与γ链的充分分离。用异亮氨酸同时标记排除了β峰被胚胎链污染。β/γ合成比值与胎儿顶臀长及孕周有显著相关性。妊娠5 ~ 16周后取出的20例胎儿的平均β/γ比值为0.087 SD ± 0.014。在另外两个胎儿中证实了βs产生和βA产生减少。我们还表明，在胎儿和母体血液的人工混合物中，或在通过胎盘抽吸获得的混合物中，β/γ合成比率与混合物中胎儿细胞分数的倒数成比例，或与胎盘或羊水细胞悬浮液中母体红细胞分数的1 +成比例。因此，可以通过从某些胎盘或羊水血液样本中获得的β/γ比率外推来计算胎儿细胞的β/γ合成比率。推测：通过检查胎盘抽吸获得的胎儿血液或胎儿和母体血液的混合物，可以准确地确定胎儿血细胞的β/γ合成比率。如果开发出一种可靠和安全的方法来获得胎儿或混合胎盘血，如果地中海贫血的β链合成减少在妊娠早期表达，那么地中海贫血和镰状细胞性贫血的产前诊断应该是可行的。
Extract: Washed fetal erythrocytes, obtained at hysterotomy, were incubated with 14C- or (H)leucine for 2 hr. Adequate separation of βA and βs from γ chains on 8 M urea columns was achieved by minor refinements of standard techniques. Contamination of the β peak with embryonic chains was excluded by simultaneous labeling with isoleucine. The β/γ synthetic ratio showed significant correlation with fetal crown-rump length and with gestational age. The mean β/γ ratio for 20 fetuses removed after 5 to 16 gestational weeks was 0.087 SD ± 0.014. βs production and decreased βA production were demonstrated in two additional fetuses. We have also shown that in artificial mixtures of fetal and maternal blood, or in mixtures obtained by placental aspiration, the β/γ synthetic ratio is proportional either to the reciprocal value of the fraction of fetal cells in the mixture, or to 1 + the fraction of maternal erythrocytes in a suspension of placental or amniotic fluid cells. It was thus possible to calculate the β/γ synthetic ratio of fetal cells by extrapolation from the β/γ ratios obtained in certain placental or amniotic fluid blood samples.Speculation: The β/γ synthetic ratio of fetal blood cells can be determined accurately by examining fetal blood or mixtures of fetal and maternal blood obtained by placental aspiration. If a reliable and safe method were developed for obtaining fetal or mixed placental blood, and if decreased β chain synthesis in thalassemia were expressed in the 1st trimester, the prenatal diagnosis of thalassemia and of sickle cell anemia should be feasible.