遗传性双白蛋白血症四例先证患者分析  

Analysis of four cases of hereditable bisaalbuminemia

作　　者：王小青[1] 徐克[1] 陈坚[1] 徐献宗[1] 刘慧敏[1] 唐少华[1] 

机构地区：[1]温州市第二人民医院检验科,325000

出　　处：《中华检验医学杂志》2005年第8期831-833,共3页Chinese Journal of Laboratory Medicine

摘　　要：目的探讨分析4例遗传性双白蛋白血症的类型与临床关系及其双白蛋白分子结构特点。方法用家系调查、全自动电泳系统和氨基酸测序等方法,对4例遗传性双白蛋白血症患者及一家系中18例双白蛋白血症患者进行检测分析。结果遗传性双白蛋白血症群体发病频率为1/6050,病例4后代发病率为46%(18/39),符合染色体显性遗传。4例患者双白蛋白血症类型均属As型(慢泳率),N端氨基酸分析排除最常见慢泳率型的基因型白蛋白原突变。结论4例遗传性双白蛋白血症均为双白蛋白非白蛋白原突变所致的慢泳率型,各病例间未见明显一致的临床表现。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.

关 键 词：双白蛋白血症 血蛋白电泳 遗传性 患者 染色体显性遗传 氨基酸分析 家系调查 结构特点 蛋白分子 临床关系 

分 类 号：R55[医药卫生—血液循环系统疾病]