Soni T, Brivet M, Blanc M, Jaeger G, Lemonnier A
Laboratoire Central de Biochimie, C.H.U. de Bicêtre, Le Kremlin-Bicêtre, France.
Am J Hum Genet. 1988 Jan;42(1):96-103.
In previous reports, it was emphasized that the gene GALKA of galactokinase was the predominant allele in white populations and that another allele, GALKP, which reduces red blood cell activity (RBC GALK), was common in black people. In a group of black Americans living in Philadelphia, the frequency of GALKA was found to be very close to values expected from independent estimation of white admixture. The authors have suggested that the ancestors of these blacks might have been virtually all GALKP homozygous. We have looked for carriers of GALKP genotypes among 73 black Africans; only 33 probands were shown to have a low RBC GALK. To detect white admixture, immunoglobulin allotypes Km and Gm were investigated in 50 individuals of the sample; 15 GALKP carriers with low RBC GALK and 30 of 35 individuals with normal RBC GALK shared Gm phenotypes exclusive to blacks. Our work demonstrates for the first time the polymorphism of GALK in black Africans in the absence of white admixture.
在以往的报告中，曾强调半乳糖激酶基因GALKA是白人种群中的主要等位基因，而另一个降低红细胞活性（红细胞半乳糖激酶，RBC GALK）的等位基因GALKP在黑人中很常见。在一组居住在费城的美国黑人中，发现GALKA的频率与通过独立估算白人混合比例所预期的值非常接近。作者们认为，这些黑人的祖先可能几乎都是GALKP纯合子。我们在73名非洲黑人中寻找GALKP基因型的携带者；只有33名先证者的红细胞半乳糖激酶活性较低。为了检测白人混合情况，在样本中的50个人中研究了免疫球蛋白同种异型Km和Gm；15名红细胞半乳糖激酶活性低的GALKP携带者以及35名红细胞半乳糖激酶活性正常的个体中的30人共享了黑人特有的Gm表型。我们的研究首次证明了在没有白人混合的情况下非洲黑人中半乳糖激酶的多态性。
