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

ABSTRACT

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.