Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients with Bisalbuminemia / 대한진단검사의학회지

BACKGROUND: Bisalbuminemia is a hereditary or an acquired condition characterized by the presence of 2 albumin variants with different mobilities on serum protein electrophoresis (SPE). The clinical significance of bisalbuminemia has not been clearly established. However, some regions of the albumin variant may affect the biochemical analysis of biomolecules such as steroid or thyroid hormones by altering their albumin-binding affinities. In this study, we analyzed the clinical manifestations, genetic variations, and the albumin-binding characteristics in Korean patients with bisalbuminemia. METHODS: We performed SPE for samples from 580 Korean subjects and identified bisalbuminemia on the basis of the results of SPE. The clinical and biochemical characteristics, ALB gene mutations, and the structures of the albumin variants of patients with bisalbuminemia were analyzed. RESULTS: SPE showed bisalbuminemia in 2 patients. One patient showed a genetic variation known as Nagasaki-1 (Asp293Gly) and the other showed a hitherto unreported missense mutation (c.593A>T; Lys198Ile). In both cases, the serum concentrations of the substances with binding affinity for albumin were not affected, and the mutation sites of the albumin were not located with the protein-binding loci. CONCLUSIONS: The 2 Korean patients with bisalbuminemia showed genetic variations, including a novel missense mutation. The ALB gene analysis with 3D modeling is useful for determining the nature of bisalbuminemia and for predicting the effects on the albumin-binding affinity of other biochemical compounds.

Analysis of four cases of hereditable bisaalbuminemia / 中华检验医学杂志

Objective Reporting and analyzing the 4 cases of hereditable bisalbuminemia and its clinical significance and the double-albumin molecules structure.Methods Application ancestry survey,SEBIA electrophoresis system,information searching and collection analysis and result of 18 cases patients in bisalbuminemia among one ancestry of the four that carried hereditable bisalbuminemia.Results The frequency of occurrence of hereditable bisalbuminemia presents as 1/6 050. The result of one ancestry indicates the incidence of the disease among offspring as 46 percents which coincide with the heredity of chromosome dominant gene. The types of the group of 4 patients of bisalbuminemia all belong to As(slow rate in electrophoresis). Biological and N-terminal amino acids analysis exclude the most common As type of genotypic mutation of albumins.Conclusion The occurrence rates and inheritant modes of hereditable bisalbuminemia were studied with the genotypes of bisalbuminemia analysed at the level of the amino acid, which makes rich the information of abnormal albuminemia research and lays the foundation of abnormal albuminemia research at the level of gene.