Teichler-Zallen D, Doherty R A
Clin Genet. 1980 Oct;18(4):257-67. doi: 10.1111/j.1399-0004.1980.tb00883.x.
Use of the well-established linkage of the secretor locus (Se) to the myotonic dystrophy locus (Dm) as an indirect means for prenatal prediction of myotonic dystrophy requires that the phenotypic expression of the fetal secretor locus be accurately and reliably assessed in amniotic fluid. Secretor status determinations on 89 amniotic fluids obtained by second trimester amniocentesis were compared with results of postnatal secretor typing of saliva samples collected from the resulting 89 offspring. The secretor types of the paired amniotic fluid-saliva samples were in agreement in all cases. The only unusual typing result was on an amniotic fluid from a blood group O secretor fetus in which the level of soluble H antigen was estimated to be about one-third that observed for other H secretors. Though it is possible that rare secretor fetuses with very low titers of soluble antigen at the time of amniocentesis could be mistyped as non-secretors, our results indicate that such an erroneous typing result would only occur in about 1-2% of all amniotic fluids tested. Constructed mixtures of 10% heparinized blood in non-secretor amniotic fluid or of 10% serum in amniotic fluid derived from secretor fetuses did not introduce sufficient levels of soluble antigen or of antibody to interfere with accurate secretor typing, thus providing reassurance that maternal and/or fetal blood contamination of amniotic fluid does not compromise accuracy of fetal secretor typing. This study documents the accuracy and reliability of amniotic fluid secretor typing for prenatal prediction of fetal risk for later development of myotonic muscular dystrophy.
利用已确立的分泌型基因座（Se）与强直性肌营养不良基因座（Dm）之间的连锁关系，作为产前预测强直性肌营养不良的间接方法，这要求在羊水中准确可靠地评估胎儿分泌型基因座的表型表达。将通过孕中期羊膜腔穿刺术获得的89份羊水的分泌型状态测定结果，与从这89名后代收集的唾液样本产后分泌型分型结果进行比较。在所有情况下，配对的羊水 - 唾液样本的分泌型均一致。唯一不寻常的分型结果是来自一名O血型分泌型胎儿的羊水，其中可溶性H抗原水平估计约为其他H分泌型所观察到水平的三分之一。虽然在羊膜腔穿刺术时可溶性抗原滴度极低的罕见分泌型胎儿有可能被误分型为非分泌型，但我们的结果表明，这种错误的分型结果仅会在所有检测的羊水中约1 - 2%的情况下出现。在非分泌型羊水或分泌型胎儿来源的羊水中加入10%肝素化血液或10%血清的混合液，不会引入足以干扰准确分泌型分型的可溶性抗原或抗体水平，从而保证羊水的母体和/或胎儿血液污染不会影响胎儿分泌型分型的准确性。本研究证明了羊水分泌型分型在产前预测胎儿后期发生强直性肌营养不良风险方面的准确性和可靠性。
