Genetical linkage between the loci for glucose‐6‐phosphate dehydrogenase deficiency and colour‐blindness in American Negroes
Genetical linkage between the loci for glucose‐6‐phosphate dehydrogenase deficiency and colour‐blindness in American Negroes
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美国黑人葡萄糖-6-磷酸脱氢酶缺乏症和色盲基因座之间的遗传联系
DOI：
10.1111/j.1469-1809.1962.tb01316.x
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发表时间：
1962
影响因子：
1.9
通讯作者：
V. McKusick
中科院分区：
文献类型：
--
作者：
I. Porter;J. Schulze;V. McKusick
葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症是一种先天性代谢缺陷。当受影响的人暴露于某些药物如8-氨基喹啉类、磺胺类、呋喃妥因、非那西丁等、蚕豆以及可能的一些病毒感染时，它会导致红细胞存活时间减少（Marks，1959）。早在1931年，Manifold就注意到了对血浆喹敏感性的种族差异，1948年，Turchetti提请注意伯氨喹敏感性的家族性质及其与蚕豆病的相似性。Hockwald、Arnold、Clayman和Alving（1952年）指出，伯氨喹敏感性在美国黑人男性中的发生率为10岁。第二年，许多药物引起的溶血性贫血被证明是由于红细胞的内在异常（Dern，Weinstein，Le Roy，Talmage & Alving，1954），1956年，卡森，Flanagan，Ickes & Alving表明这是由于G-6-PD酶缺乏所致。G-6-PD缺乏症仅限于某些种族群体，这表明G-6-PD缺乏症具有遗传起源，这一点得到了查尔兹、Zinkham、Browne、Kimbo和Torbert（1958）的证实，他们表明G-6-PD缺乏症可能是X连锁的，尽管他们不能排除性别限制的常染色体遗传。X连锁与常染色体显性遗传的区别在于：（1）与非携带者女性结婚的受影响男性从未影响过男性子女，如果该性状是显性的，则其所有女性子女都会受到影响;（2）相关基因座与标记基因座之间存在遗传连锁，证明是X连锁的，如色盲;或（3）染色体构成XO（特纳综合征）的个体具有与男性相同的表型频率（Polani，Lessof & Bishop，1956; Nilsson，Kergman，Reitalu & Waldenstrom，1959; Penrose，1961; Gartler，Vullo & Gardini，1962）。此外，已经显示受影响的黑人和白人男性在G-6-PD缺陷的表达方面存在定量差异（Marks & Gross，1959）。因此，与白细胞中G-6-PD水平正常或接近正常，平均红细胞酶活性正常20岁的受影响黑人男性相反，受影响的高加索男性似乎白细胞G-6-PD水平约为正常的30%，红细胞酶活性平均为正常值的6岁。因此，有趣的是，发现G-6-PD缺乏症和色盲基因座之间的重组分数在两个种族中也显着不同，因为这将证明G-6-PD缺乏症的表达差异是由于不同的遗传基因座。
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an inborn error of metabolism. It leads to reduction of red cell survival time when an affected person is exposed to certain drugs such as 8-amino-quinolines, sulphonamidea, nitrofurantoin, phenacetin and others, fava beans and perhaps some virus infections (Marks, 1959). As early as 1931 a racial difference in sensitivity to plasmaquine was noticed by Manifold, and in 1948 Turchetti drew attention to the familial nature of primaquine sensitivity and its similarity to favism. Hockwald, Arnold, Clayman & Alving (1952) showed that the incidence of primaquine sensitivity in American Negro males was 10 yo. The following year it was demonstrated that many drug-induced haemolytic anaemias were due to an intrinsic abnormality of the erythrocytes (Dern, Weinstein, Le Roy, Talmage & Alving, 1954), and in 1956 Carson, Flanagan, Ickes & Alving showed that this is due to a deficiency of the enzyme G-6-PD. Limitation of the deficiency to certain racial groups suggested that G-6-PD deficiency had a genetic origin, and this was confirmed by Childs, Zinkham, Browne, Kimbo & Torbert (1958), who showed that it is probably X-linked, although they could not exclude sex-limited autosomal inheritance. X-linkage can be distinguished from autosomal dominant inheritance with manifestation limited to the male by showing: (1) that affected males married to non-carrier females never have affected male children, and if the trait is dominant, that all their female children are affected; (2) that there is genetical linkage between the relevant locus and a marker locus, proven to be X-linked, such as colour-blindness ; or (3) that individuals of the chromosome constitution XO (Turner’s Syndrome) have the same phenotype frequencies as males (Polani, Lessof & Bishop, 1956; Nilsson, Kergman, Reitalu & Waldenstrom, 1959; Penrose, 1961; Gartler, Vullo & Gardini, 1962). Further, i t has been shown that affected Negro and Caucasian males differ quantitatively in the expression of G-6-PD deficiency (Marks & Gross, 1959). Thus in contrast to affected Negro males, who have normal or near normal G-6-PD levels in the leukocytes and a mean erythrocyte enzyme activity 20 yo of normal, affected Caucasian males appear to have a leukocyte G-6-PD level about 30 % of normal and red cell enzyme activity which averages 6 yo of normal values. It would, therefore, be interesting to find that the recombination fraction between the loci for G-6-PD deficiency and colour-blindness were also significantly different in the two ethnic groups) as this would be evidence that the difference in expression of G-6-PD deficiency is due to different genetical loci.