Haseltine F P, Lynch V A, Van Dyke D L, Breg W R, Francke U
Am J Med Genet. 1982 Oct;13(2):115-23. doi: 10.1002/ajmg.1320130203.
Cells from three patients with early gonadal failure and a balanced reciprocal translocation involving the long arm of the X chromosome and an autosome were studied. Fibroblasts from a patient with a similar balanced reciprocal translocation but normal reproductive capabilities were also studied. Two of the four patients were found to have serologically detectable H-Y antigen on their cells. Since H-Y antigen has been found on the cells of other patients with X chromosome abnormalities but without a Y chromosome, it is thought that the X chromosome plays a role in the regulation of H-Y antigen expression. This study suggests that the long arm of the X chromosome may be involved but the location of a regulatory gene cannot be identified in these studies. These cases do not permit us to implicate H-Y antigen as a cause of gonadal dysgenesis and early gonadal failure in females who have structurally abnormal X chromosomes.
对三名患有早期性腺功能衰竭且存在涉及X染色体长臂与一条常染色体的平衡易位的患者的细胞进行了研究。还研究了一名患有类似平衡易位但生殖能力正常的患者的成纤维细胞。四名患者中有两名被发现其细胞上有血清学可检测到的H-Y抗原。由于在其他有X染色体异常但无Y染色体的患者细胞上也发现了H-Y抗原，因此认为X染色体在H-Y抗原表达的调节中起作用。这项研究表明X染色体长臂可能参与其中，但在这些研究中无法确定调节基因的位置。这些病例不允许我们将H-Y抗原牵连为具有结构异常X染色体的女性性腺发育不全和早期性腺功能衰竭的原因。
