Deficiency of AMP deaminase in erythrocytes
Deficiency of AMP deaminase in erythrocytes
复制标题
红细胞中 AMP 脱氨酶缺乏
DOI：
10.1007/bf00273831
复制
发表时间：
1987
期刊：
影响因子：
5.3
通讯作者：
K. S. Park
中科院分区：
文献类型：
--
作者：
N. Ogasawara;H. Goto;Y. Yamada;I. Nishigaki;T. Itoh;I. Hasegawa;K. S. Park
本文报告了6例红细胞AMP脱氨酶完全缺乏症。他们都很健康，没有血液系统疾病。这种缺陷仅在红细胞型同工酶E中存在，并作为常染色体隐性性状遗传。突变基因的频率高得惊人，在日本、首尔和台北，大约30个人口中就有一个杂合子。与对照细胞相比，AMP缺陷型红细胞的ATP水平高约50%。腺嘌呤核苷酸的降解在缺陷红细胞中比在对照红细胞中慢。
SummarySix individuals with complete deficiency of erythrocyte AMP deaminase have been discovered. They are all healthy and have no hematological disorders. The deficiency is only in isozyme E, which is the erythrocyte type isozyme, and is inherited as an autosomal recessive trait. The frequency of the mutant gene is surprisingly high, one heterozygote in about 30 of the population in Japan, Seoul, and Taipei. The ATP level is approximately 50% higher in AMP-deficient erythrocytes compared to that of control cells. Degradation of adenine nucleotide is slower in the deficient erythrocytes than in the control erythrocytes.