Moreira-Filho C A, Amaral A T, Otto P G, Vianna-Morgante A M, Otto P A, Elejalde B R
Hum Genet. 1981;57(4):366-70. doi: 10.1007/BF00281686.
H-Y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the patient's karyotype was a mosaic, 45,XO/46,X+mar, as detected in-peripheral blood cells and testis-derived fibroblasts, all the fibroblasts derived from the streak gonad were 45,XO. These data suggests that the marker chromosome was in fact a Y-derived chromosome. Moreover, they showed that, at the gonadal level, a minority of H-Y positive 46,X+mar cells were able to organize a testis. Nevertheless, a large number of XO cells probably did not receive the testicular forming influence of the H-Y antigen and of the other masculinizing factors.
对一名患有混合型性腺发育不全患者的白细胞和性腺来源的成纤维细胞进行了H-Y抗原表达研究。来自睾丸的血液白细胞和成纤维细胞分型为H-Y阳性，但来自条索状性腺的成纤维细胞为H-Y阴性。尽管在外周血细胞和睾丸来源的成纤维细胞中检测到患者的核型为嵌合体，45,XO/46,X+mar，但所有来自条索状性腺的成纤维细胞均为45,XO。这些数据表明，标记染色体实际上是一条Y衍生染色体。此外，他们还表明，在性腺水平上，少数H-Y阳性的46,X+mar细胞能够形成睾丸。然而，大量的XO细胞可能没有受到H-Y抗原和其他男性化因子的睾丸形成影响。
