Shimizu K, Harano T, Harano K, Miwa S, Amenomori Y, Ohba Y, Kutlar F, Huisman T H
Am J Hum Genet. 1986 Jan;38(1):45-58.
Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in alpha-globin gene and gamma-globin gene arrangements using gene mapping and gamma-chain composition analyses. The results confirmed the rarity of alpha-thalassemia among Japanese; only a few babies had alpha-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had alpha-globin gene triplications (both the alpha alpha alpha anti-3.7 and the alpha alpha alpha anti-4.2 types). Among the gamma-globin gene anomalies that were observed, a few babies had the -A gamma-A gamma- globin gene arrangement or the -G gamma A gamma- type of deletion. The gamma-chain triplication (-G gamma-A gamma G gamma-A gamma-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -G gamma A gamma- deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the gamma-globin gene deletion and triplication. The A gamma T variant, which is the product of a mutant A gamma-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant A gamma gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with beta-thalassemia.
从东京、仓敷和宇部的医院收集了来自相对较大群体（264名）健康日本新生儿的血样数据。这些研究包括使用基因图谱和γ链组成分析对α-珠蛋白基因和γ-珠蛋白基因排列异常进行评估。结果证实α地中海贫血在日本人中很罕见；只有少数婴儿有α地中海贫血-2特征（-3.7千碱基[kb]缺失），而其他婴儿有α-珠蛋白基因三倍体（ααα抗-3.7和ααα抗-4.2两种类型）。在观察到的γ-珠蛋白基因异常中，少数婴儿有-Aγ-Aγ-珠蛋白基因排列或-GγAγ-型缺失。γ链三倍体（-Gγ-AγGγ-Aγ-）在256名新生儿中有10名出现，其频率比相应的-GγAγ-缺失高出5倍。除了Bg1II和BclI酶外，限制性内切酶XmnI是评估和确认γ-珠蛋白基因缺失和三倍体的有用工具。AγT变体是突变型Aγ-珠蛋白基因的产物，出现频率为0.156。携带这种突变型Aγ基因的染色体具有一种特征性单倍型，最初在患有血红蛋白（Hb）S或β地中海贫血的黑人和地中海患者中发现。
