Wolf U, Fraccaro M, Mayerová A, Hecht T, Zuffardi O, Hameister H
Hum Genet. 1980;54(3):315-8. doi: 10.1007/BF00291575.
H-Y antigen was examined in six patients exhibiting the characteristic features of Turner syndrome. Five of the patients were of the karyotype 45,X, and one was a mosaic 45,X/46, Xi(Xq). H-Y antigen was detected in all of them, however, compared to male controls, their antigen titer was reduced. Within the intermediate range between female and male controls, considerable interindividual variation was detected among the patients which could be due to least in part to biological variation. The findings permit the inference that the H-Y structural gene is not Y-linked, and support the assumptions of an X-linked gene escaping inactivation and of it controlling the expression of the H-Y structural gene. It is probable that the structural gene itself is autosomal. The results also suggest that male gonadal differentiation is dependent on a threshold level of H-Y antigen concentration.
对六名表现出特纳综合征特征的患者进行了H-Y抗原检测。其中五名患者的核型为45,X，一名为嵌合体45,X/46, Xi(Xq)。然而，在所有这些患者中均检测到了H-Y抗原，不过与男性对照相比，他们的抗原滴度降低了。在女性和男性对照的中间范围内，患者之间检测到了相当大的个体差异，这至少部分可能是由于生物学变异所致。这些发现表明H-Y结构基因并非Y连锁，并支持了一个X连锁基因逃避失活并控制H-Y结构基因表达的假设。结构基因本身很可能是常染色体的。结果还表明，男性性腺分化取决于H-Y抗原浓度的阈值水平。
