Fraccaro M, Mayerová A, Wolf U, Bühler E, Gebauer J, Gilgenkrantz S, Lindsten J, Lo Curto F, Ritzén E M
Hum Genet. 1982;61(2):135-40. doi: 10.1007/BF00274203.
H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,XXY Klinefelter syndrome. The existence of an intermediary titer was further substantiated by a quantitative absorption test applied to cells with the 49,XXXXY karyotype. It appears that in the presence of one Y chromosome, the H-Y antigen titer decreases with an increasing number of X chromosomes. In contrast, the H-Y antigen titer is increased if, at a given number of X chromosomes, the number of Y chromosomes is increased, as in the 47,XYY male. Consequently, patients with 48,XXYY chromosomes are in the male control range. The findings are interpreted under the hypothesis of a controlling or modifying influence of the sex chromosomes on the titer of H-Y antigen.
对性染色体数目异常患者的血细胞和培养成纤维细胞进行了H-Y抗原的血清学研究。与正常男性相比,核型为48,XXXY和49,XXXXY的患者H-Y抗原滴度降低;在47,XXY克氏综合征患者中也可检测到滴度降低的趋势。通过对核型为49,XXXXY的细胞进行定量吸收试验,进一步证实了中间滴度的存在。似乎在存在一条Y染色体的情况下,H-Y抗原滴度会随着X染色体数量的增加而降低。相反,如果在给定数量的X染色体下,Y染色体数量增加,如47,XYY男性,H-Y抗原滴度会升高。因此,48,XXYY染色体的患者处于男性对照范围内。这些发现是在性染色体对H-Y抗原滴度具有控制或修饰作用这一假设下进行解释的。