Joly Philippe, Francina Alain, Lacan Philippe, Heraut Jessica, Chapuis-Cellier Colette
Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Edouard-Herriot, Lyon, France.
Ann Biol Clin (Paris). 2011 Sep-Oct;69(5):571-6. doi: 10.1684/abc.2011.0613.
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 (PiM1 to PiM4) or loss of the most common (PiS and PiZ) 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.
α-1抗胰蛋白酶（A1AT）缺乏症的诊断基于血清蛋白的等电聚焦和血清浓度。然而，聚焦技术难度大，异常A1AT无条带时浓度大幅降低，无法区分称为“无效”（即无任何表型表达）的不稳定变异体与“杂合”状态。在本研究中，我们比较了50例患者的检测结果、A1AT的表型和基因型。在表型分析中可明确识别正常A1AT等位基因（PiM1至PiM4）或最常见等位基因的缺失（PiS和PiZ）。然而，基因分型对于以下情况的特征描述是必要的：（i）某些罕见的A1AT等位基因（S-慕尼黑、X-克赖斯特彻奇）；（ii）一个无效等位基因；以及（iii）两个尚未在文献中描述的新A1AT等位基因。总之，虽然一般不需要进行A1AT基因分型，但解决复杂病例以及获得经等电聚焦验证的对照时是必要的。
