与腺苷脱氨酶缺乏相关的联合免疫缺陷病携带者状态的检测。
Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency.
作者信息
Scott C R, Chen S H, Giblett E R
出版信息
J Clin Invest. 1974 Apr;53(4):1194-6. doi: 10.1172/JCI107658.
Abstract
A large pedigree containing a child with severe combined immunodeficiency disease (CID) associated with adenosine deaminase (ADA) deficiency was investigated to ascertain if heterozygotes could be detected by measuring red cell ADA activity. 9 of 17 individuals in three generations who were at risk for being heterozygous had decreased red cell ADA activity. This genetic information establishes one form of CID as an autosomal recessive disorder. The identified heterozygote population had a mean ADA value of 19.2 U/g hemoglobin (0.95 confidence interval; 14.0 to 24.4 U/g hemoglobin), which was approximately one-half the mean, 36.1 U/g hemoglobin, of a randomly selected control population (0.95 confidence interval; 22.5-58.1 U/g hemoglobin). Statistical comparisons of the heterozygotes to the normal population indicates that within a high-risk family heterozygotes may be identified with 90% confidence.
摘要
对一个患有与腺苷脱氨酶（ADA）缺乏相关的严重联合免疫缺陷病（CID）的儿童的大家族进行了调查，以确定杂合子是否可以通过测量红细胞ADA活性来检测。三代中17个有杂合子风险的个体中有9个红细胞ADA活性降低。这一遗传信息确定了CID的一种形式为常染色体隐性疾病。所识别出的杂合子群体的ADA平均值为19.2 U/g血红蛋白（0.95置信区间；14.0至24.4 U/g血红蛋白），约为随机选择的对照群体平均值36.1 U/g血红蛋白（0.95置信区间；22.5 - 58.1 U/g血红蛋白）的一半。杂合子与正常群体的统计比较表明，在高危家族中，有90%的把握可以识别出杂合子。
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