De Benedictis G
Boll Soc Ital Biol Sper. 1981 Nov 30;57(22):2209-14.
Radial Immuno Diffusion performed by including in agar serum from a polytransfused Cooley patient (beta-thalassemic homozygous) allowed to identify a human serum antigen marker of an autosomal polymorphic locus. the antigen and its coding gene were named AS and AS respectively. Genetic tests indicate that the AS1 dominant allele codes for the presence of AS in the serum while the AS0 recessive allele codes for its absence. The frequency of the AS0/AS0 homozygous genotype results to be greater in Cooley than in healthy people thus suggesting that the AS0 and beta-thal alleles may be in linkage disequilibrium. The observation that the frequency of the AS0 beta-thal haplotype is greater than the product of the frequencies of the alleles which form it, confirms such a linkage.
通过在琼脂中加入多次输血的库利氏病患者（β地中海贫血纯合子）的血清进行径向免疫扩散，得以鉴定出一个常染色体多态性位点的人类血清抗原标志物。该抗原及其编码基因分别命名为AS和AS。基因检测表明，AS1显性等位基因编码血清中AS的存在，而AS0隐性等位基因编码其缺失。AS0/AS0纯合基因型的频率在库利氏病患者中比健康人更高，因此表明AS0和β地中海贫血等位基因可能处于连锁不平衡状态。AS0β地中海贫血单倍型的频率大于构成它的等位基因频率之积这一观察结果，证实了这种连锁关系。
