Huisman T H, Miller A
Am J Hum Genet. 1976 Jul;28(4):363-9.
Hematological evaluation and data from chain synthesis analyses in six members of the family with two members having Hb Grady (i.e., and alpha chain variant with elongated chains due to an insertion of three amino acid residues [1]) indicate the presence of multiple nonallelic Hb alpha structural loci in the single Hb Grady heterozygote. The data support the earlier stated hypothesis that the Hb alpha Grady locus resulted from a crossing over between chromosomes of two tandemly repeated Hb alpha loci. The presence of an alpha thalassemia condition in one of the two Hb Grady heterozygotes increases the relative production of the alpha Grady chain by a factor of two.
对该家族六名成员进行的血液学评估以及链合成分析数据(其中两名成员患有格雷迪血红蛋白,即由于插入三个氨基酸残基导致α链变体且链延长[1])表明,在单一格雷迪血红蛋白杂合子中存在多个非等位的血红蛋白α结构基因座。这些数据支持了之前提出的假说,即格雷迪血红蛋白α基因座是由两个串联重复的血红蛋白α基因座的染色体之间发生交叉而产生的。两名格雷迪血红蛋白杂合子中的一名存在α地中海贫血情况,这使得格雷迪α链的相对产量增加了两倍。