Expression of the beta-thalassemia gene in the first trimester fetus.
Expression of the beta-thalassemia gene in the first trimester fetus.
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β-地中海贫血基因在妊娠早期胎儿中的表达。
DOI：
10.1073/pnas.72.9.3633
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发表时间：
1975
影响因子：
11.1
通讯作者：
D. Nathan
中科院分区：
文献类型：
--
作者：
H. Chang;C. B. Modell;B. Alter;M. Dickinson;F. Frigoletto;E. Huehns;D. Nathan
为了确定β-地中海贫血是否可以在胎儿中检测到，从正常母亲和具有β-地中海贫血性状的母亲的流产物中获得血液。将红细胞与放射性亮氨酸一起孵育，并通过放射色谱法分析珠蛋白链。利用两种独立的方法校正母体放射性β链污染的结果，并将校正的β/γ比值与先前确定的正常胎儿β/γ合成比值范围进行比较，该正常胎儿β/γ合成比值范围通过在纯胎儿细胞中进行类似测量获得。在三个来自β地中海贫血母亲的胎儿的红系细胞中，两个胎儿的β/γ合成比率正常。第三个在10 1/2周时β/γ比值为0.04，降低了50%，与胎儿β地中海贫血特征一致。另外两个胎儿，来自父母谁都有β地中海贫血性状，也进行了研究。一个在8周时β/γ比率为0.029，降低了65%，也与β地中海贫血性状一致。另一组的细胞在11周时的比率基本为零，高度提示纯合子β地中海贫血。虽然需要进一步的经验来区分纯合子和杂合子状态，但现在看来，β地中海贫血基因在前三个月表达。因此，这些数据表明，产前诊断β地中海贫血正在成为一个可以实现的目标。
To determine whether beta-thalassemia can be detected in the fetus, blood was obtained from abortuses of normal mothers and of mothers with beta-thalassemia trait. The red cells were incubated with radioactive leucine and the globin chains were analyzed by radiochromatography. Two independent methods were utilized to correct the results for contamination by maternal radioactive beta-chain, and the corrected beta/gamma ratios were compared to a previously established range of normal fetal beta/gamma synthetic ratios obtained by similar measurements in pure fetal cells. In the erythroid cells of three fetuses from mothers with beta-thalassemia trait, the beta/gamma synthetic ratio was normal in two. The third had a beta/gamma ratio of 0.04 at 10 1/2 weeks, a 50% reduction, consistent with fetal beta-thalassemia trait. Two other fetuses, derived from parents both of whom had beta-thalassemia trait, were also studied. One had a beta/gamma ratio of 0.029 at 8 weeks, a 65% reduction, also consistent with beta-thalassemia trait. The cells of the other had a ratio of essentially zero at 11 weeks, highly suggestive of homozygous beta-thalassemia. Although further experience will be needed to distinguish the homozygous and heterozygous states reliably, it now appears that the beta-thalassemia gene is expressed in the first trimester. Therefore these data suggest that the antenatal diagnosis of beta-thalassemia is becoming an attainable goal.