?SZ like? ?1-antitrypsin phenotypes in PI ZZ children with liver disease
ANNALS OF HUMAN GENETICS(1994)
摘要
Using high resolution isoelectric focusing, alpha 1-antitrypsin phenotypes were studied in 106 individuals of the PI ZZ genotype including 71 with liver disease, 22 with chest disease and 13 healthy subjects. The resulting Z patterns were found to be highly variable. In the majority of cases (89/106) the maximum staining intensity was either in the most basic isoform or shared equally between two basic isoforms of the Z phenotype. However, in 17 cases there was a marked intensification of the more acidic isoforms resulting in a pattern which closely resembled the SZ phenotype. This 'SZ like' pattern occurred more frequently in the liver group (16/71) than the chest group (0/22) or healthy (1/13) controls. One possible consequence of the 'SZ like' pattern is confusion with the genuine SZ phenotype leading to misclassification. If this were so, there could be an erroneous exaggeration of the actual incidence of childhood liver disease associated with PI SZ.
更多查看译文
关键词
liver disease,pi zz children
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要