Harano K, Harano T, Kutlar F, Huisman T H
FEBS Lett. 1985 Oct 7;190(1):45-9. doi: 10.1016/0014-5793(85)80424-5.
Cord blood samples of 113 Japanese babies from Kurashiki, Japan, were analyzed for the presence of possible modifications in gamma-globin gene arrangements and for changes in the relative quantities of the gamma chains G gamma, A gamma, and its variant A gamma T. As many as 9 babies had the gamma-globin gene triplication, one a gamma-globin gene quadruplication, and two a gamma-globin gene deletion. The triplication and quadruplication involved cross-overs within the G gamma- and A gamma-globin genes resulting in a hybrid gene with the 5'-segment being derived from the A gamma and the 3'-segment from the G gamma-globin gene (-AG gamma-). The G gamma value of the 9 babies with the -G gamma-AG gamma-A gamma-globin gene arrangement averaged approximately 80% and that of the baby with -G gamma-AG gamma-AG gamma-A gamma- was 78%. Four of the 9 babies with the triplication and the baby with the quadruplication had an A gamma T mutation in trans; in these babies, the A gamma chain level (from the A gamma-globin gene in 3'-position in the tri- and quadruplication arrangements) was decreased to about one-third and one-sixth of the level observed in the simple A gamma T heterozygote. This observation supports the suggestion that transcription beginning at the 5'-gamma-globin gene interferes with that of the 3'-gamma-globin gene.
对来自日本仓敷市的113名日本婴儿的脐带血样本进行了分析，以检测γ-珠蛋白基因排列中可能存在的改变以及γ链Gγ、Aγ及其变体AγT相对数量的变化。多达9名婴儿存在γ-珠蛋白基因三倍体，1名婴儿存在γ-珠蛋白基因四倍体，2名婴儿存在γ-珠蛋白基因缺失。三倍体和四倍体涉及Gγ-和Aγ-珠蛋白基因内的交叉，产生一种杂合基因，其5'-片段源自Aγ，3'-片段源自Gγ-珠蛋白基因（-AGγ-）。具有-Gγ-AGγ-Aγ-珠蛋白基因排列的9名婴儿的Gγ值平均约为80%，而具有-Gγ-AGγ-AGγ-Aγ-的婴儿的Gγ值为78%。9名三倍体婴儿中的4名和四倍体婴儿在反式中存在AγT突变；在这些婴儿中，Aγ链水平（在三倍体和四倍体排列中3'-位置的Aγ-珠蛋白基因）降至简单AγT杂合子中观察到水平的约三分之一和六分之一。这一观察结果支持了从5'-γ-珠蛋白基因开始的转录会干扰3'-γ-珠蛋白基因转录的观点。
