Yenchitsomanus P T, Summers K M, Bhatia K K, Board P G
Aust J Exp Biol Med Sci. 1986 Jun;64 ( Pt 3):297-306. doi: 10.1038/icb.1986.31.
alpha- and beta-thalassaemias and other haemoglobinopathies have not so far been reported in Australian Aborigines. Using a DNA mapping technique, we tested groups of Aborigines for a deletion form of alpha-thalassaemia and found that there was a single alpha-globin gene deletion (-alpha/alpha alpha) in some populations. The alpha-globin gene deletion was detected in Aboriginal DNA samples collected from Kalumburu in the Kimberley region of Western Australia. It was found also in one sample from Mowanjum, near Derby in Western Australia, and in one from Mornington Island in the Gulf of Carpentaria. It was not observed in Aboriginal DNA samples from the central desert. Further analysis of the alpha-globin gene deletion revealed that it was of the 3.7 kilobase (Kb) (-alpha 3.7) type. However, the -alpha 3.7 deletion in the Aborigines is apparently different from that found in southern Papua New Guinea as it is linked to a different zeta-globin gene polymorphism. The presence of this silent alpha-thalassaemia in several populations of Aborigines may be explained in several ways. The most likely is through contact with Macassans or other voyagers from the Indonesian and Southeast Asian areas.
到目前为止，澳大利亚原住民中尚未报告α和β地中海贫血及其他血红蛋白病。我们使用DNA图谱技术，对原住民群体进行了α地中海贫血缺失型检测，发现部分人群存在单个α珠蛋白基因缺失（-α/αα）。在从西澳大利亚金伯利地区的卡伦布鲁采集的原住民DNA样本中检测到了α珠蛋白基因缺失。在西澳大利亚德比附近的莫万朱姆的一个样本以及卡奔塔利亚湾的莫宁顿岛的一个样本中也发现了该缺失。在中部沙漠的原住民DNA样本中未观察到该缺失。对α珠蛋白基因缺失的进一步分析表明，它属于3.7千碱基（Kb）（-α3.7）类型。然而，原住民中的-α3.7缺失显然与在巴布亚新几内亚南部发现的不同，因为它与不同的ζ珠蛋白基因多态性相关。在几个原住民群体中存在这种静止型α地中海贫血可能有多种解释。最有可能的是通过与来自印度尼西亚和东南亚地区的望加锡人或其他航海者接触。
