Boman H, Hermodson M, Hammond C A, Motulsky A G
Clin Genet. 1976 May;9(5):513-26. doi: 10.1111/j.1399-0004.1976.tb01606.x.
Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin. The Gc-locus is closely linked to the structural albumin locus. Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus. These findings suggest a "thalassemia"-like mutation for this disorder.
在一名患有特应性皮炎、轻度支气管哮喘、轻度癫痫症和伴有角膜弓的高脂蛋白血症的无水肿12岁美国印第安女孩中偶然发现了无白蛋白血症。免疫方法检测到微量(17毫克/100毫升)明显正常的血清白蛋白。患者的父母有远亲关系。系谱和临床发现与无白蛋白血症的常染色体隐性遗传相符。杂合子血清白蛋白水平低于正常。Gc基因座与结构白蛋白基因座紧密相连。患者的Gc蛋白水平正常,加上正常的染色体带型研究,使得染色体缺失导致无白蛋白血症的可能性不大。该家族中的Gc类型与无白蛋白血症和Gc基因座的连锁相符,但未得到证实。这些发现提示该疾病存在类似“地中海贫血”的突变。