One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
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严重联合免疫缺陷患者的一个腺苷脱氨酶等位基因含有一个点突变，该突变消除了酶的活性。
作者：
D. Valerio;B. Dekker;M. Duyvesteyn;L. Voorn;T. Berkvens;H. Ormondt;A. Eb
我们克隆并测序了一个腺苷脱氨酶（ADA）基因从一个严重的联合免疫缺陷症（SCID）的遗传性ADA缺乏症引起的。发现两个点突变，导致蛋白质的位置80（Lys至Arg）和304（Leu至Arg）处的氨基酸取代。使用合成寡核苷酸探针的杂交实验表明，ADA-SCID患者的DNA和RNA中均存在确定的突变。此外，可以在相同位置检测到野生型序列，表明复合杂合性。体外诱变ADA表达克隆的研究表明，304位突变导致ADA失活。
We have cloned and sequenced an adenosine deaminase (ADA) gene from a patient with severe combined immunodeficiency (SCID) caused by inherited ADA deficiency. Two point mutations were found, resulting in amino acid substitutions at positions 80 (Lys to Arg) and 304 (Leu to Arg) of the protein. Hybridization experiments with synthetic oligonucleotide probes showed that the determined mutations are present in both DNA and RNA from the ADA‐SCID patient. In addition, wild‐type sequences could be detected at the same positions, indicating a compound heterozygosity. Studies with ADA expression clones mutagenized in vitro showed that the mutation at position 304 is responsible for ADA inactivation.
腺苷脱氨酶缺陷的人淋巴母细胞系中的免疫反应蛋白。
DOI：
--
发表时间：
1982
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Wiginton,DA;Hutton,JJ
通讯作者：
Hutton,JJ
人腺苷脱氨酶 cDNA 序列的克隆。
DOI：
10.1073/pnas.80.24.7481
发表时间：
1983
影响因子：
11.1
作者：
Wiginton,DA;Adrian,GS;Friedman,RL;Suttle,DP;Hutton,JJ
通讯作者：
Hutton,JJ