The use of gamma interferon to increase HLA antigen expression on cultured amniotic cells used for the prenatal diagnosis of 21-hydroxylase deficiency.
The use of gamma interferon to increase HLA antigen expression on cultured amniotic cells used for the prenatal diagnosis of 21-hydroxylase deficiency.
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使用 γ 干扰素增加培养羊膜细胞上的 HLA 抗原表达，用于 21-羟化酶缺乏症的产前诊断。
DOI：
10.1111/j.1749-6632.1985.tb14599.x
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发表时间：
1985
影响因子：
5.2
通讯作者：
Pollack,MS
中科院分区：
文献类型：
--
作者：
Maurer,DH;Pollack,MS
如前所述，HLA分型可用作产前诊断HLA连锁的单基因疾病先天性肾上腺皮质增生症（由于21-羟化酶）的主要测试。它也可用于产前诊断另一种HLA连锁疾病，补体C4缺乏症，并用于产前亲子鉴定。最重要的是，产前羊水细胞HLA分型的成功测试结果迄今已被证明在所有产后样本可用的情况下都是准确的。然而，在少数情况下，技术和理论上的困难使得羊水细胞的HLA测试结果难以解释。这些困难的产生是因为B和C基因座抗原在大多数羊膜细胞培养物上表达不足，“因为HLA连锁疾病因子和特异性HLA之间存在正相关增加了处于该疾病风险的妊娠中的父母双方在其HLA连锁疾病单倍型上具有相同HLA抗原的机会，并且因为父母一方是HLA-A，B纯合子。在一个特定的情况下（Pang等），“弱的HLA-B抗原表达导致在有21-OH缺乏风险的胎儿中检测不到HLA-A/B重组。亲本21-OH缺乏单倍型均具有HLA-B18，并且HLA-A/B重组导致B18和21-OH缺乏等位基因均转化为纯合性。在另一个病例中，在北美白种人中频率为6%的单倍型HLA-A2，Bw 44，在一个2 - 1-OH缺乏症家族的母亲中具有纯合表达，这排除了HLA分型用于
As previously stated, HLA typing can be used as the primary test for the prenatal diagnosis of the HLA-linked monogenetic disease congenital adrenal hyperplnsia due to 21-hydroxylase It can also be used for the prenatal diagnosis of another HLA-linked disease, complement C4 deficiency: and for the prenatal determination of paternity.','Most importantly, successful test results from prenatal HLA typing of amniotic fluid cells have so far proved accurate in all cases in which postnatal samples have been available. However, in a few instances, technical and theoretical difficulties have made HLA test results for amniotic fluid cells difficult to inter~ ret.~ These difficulties have resulted because B and C locus antigens are poorly expressed on most amniotic cell cultures'" because the existence of positive associations between HLA-linked disease factors and specific HLA increases the chance that both parents in a pregnancy at risk for that disease will have the same HLA antigens on their HLA-linked disease haplotypes, and because one parent has been HLA-A, B homozygous.In one particular case (Pang et al.)," weak HLA-B antigen expression resulted in failure to detect an HLA-A/B recombination in a fetus at risk for 21-OH deficiency. The parental 21-OH deficiency haplotypes both had HLA-B18, and the HLA-A/B recombination resulted in conversion to homozygosity for both B18 and the 21-OH deficiency alleles. In another case, the haplotype HLA-A2, Bw44, which has a frequency of 6% in North American Cauca~ ians,'~ had homozygous expression in the mother of one 2 1-OH deficiency family, which precluded the use of HLA typing for