钴胺素的人类R型结合蛋白先天性缺乏。
Congenital deficiency of human R-type binding proteins of cobalamin.
作者信息
Hall C A, Begley J A
出版信息
Am J Hum Genet. 1977 Nov;29(6):619-26.
Abstract
A family expressing the congenital absence of the R-type binders of cobalamin (Cbl), vitamin B-12, was restudied. The capacity to bind Cbl to R type binders was absent from serum, saliva, cerebrospinal fluid, gastric juice granulocytes, and granulocyte output of the propositus. Serum R did not carry Cbl in vivo. There was no immunological R binder in his saliva, but cross reacting material was detected in his serum. Evidence of a partial expression of the defect was observed in offspring of two affected persons. There were no obvious clinical consequences of the defect.
摘要
对一个患有先天性钴胺素（Cbl，维生素B - 12）R型结合蛋白缺失症的家族进行了重新研究。先证者的血清、唾液、脑脊液、胃液粒细胞以及粒细胞分泌物中均缺乏将Cbl结合至R型结合蛋白的能力。血清R在体内不携带Cbl。其唾液中不存在免疫性R结合蛋白，但在其血清中检测到了交叉反应物质。在两名患病者的后代中观察到了该缺陷部分表达的证据。该缺陷未产生明显的临床后果。
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本文引用的文献
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Immunological properties of human vitamin B 12 binders.
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