[基因分型在表型和血清α-1抗胰蛋白酶检测之外的定位]

摘要(中文译文)

α1-抗胰蛋白酶（A1AT）缺乏症的诊断基于血清蛋白等电聚焦及血清浓度测定。然而，等电聚焦在技术上较为困难，且异常A1AT条带中浓度大幅降低无法区分不稳定变异型、称为“无效”（即无任何表型表达）的变异型与“杂合”状态。在本研究中，我们比较了50例患者的A1AT检测结果、表型及基因型。在表型分析中，正常A1AT等位基因（Pi*M1至Pi*M4）或最常见的缺失等位基因（Pi*S和Pi*Z）可被明确识别。然而，基因分型对于以下情况的特征描述是必要的：（i）某些较罕见的A1AT等位基因（S-Munich、X-Christchurch）；（ii）无效等位基因；（iii）两个文献中尚未描述的新A1AT等位基因。总之，尽管A1AT基因分型通常并非必要，但对于解决复杂病例以及获得经等电聚焦验证的对照样本而言，基因分型是必要的。

Abstract

The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared the results of the assay, the phenotype and genotype of A1AT in 50 patients. Normal A1AT alleles (Pi*M1 to Pi*M4) or loss of the most common (Pi*S and Pi*Z) were clearly identified in phenotyping. However, genotyping was necessary to characterize: (i) certain alleles rarer A1AT (S-Munich, X-Christchurch); (ii) a null allele and; (iii) two new alleles A1AT not yet described in the literature. In conclusion, although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing.

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