Brandt C A
Aarhus Universitet, Institut for Human Genetik.
Ugeskr Laeger. 1992 Nov 16;154(47):3312-6.
Molecular analysis of structural chromosomal abnormalities, involving the sex chromosomes, has provided us new knowledge concerning sex determination in humans. This has raised three hypotheses of sexual differentiation, which will be discussed even though none of these can explain all abnormalities involved. Meiotic recombination which normally takes place during the male meiotic cell division, can give rise to sex reversal syndromes such as XX male and XY female, if crossing over is abnormal. Analysis of these abnormalities has made it possible to map sex determining regions on chromosome Y, and to construct a deletion map. Methods using DNA probes, are capable of identifying Y-specific sequences in persons with sex reversal. This means a more optimal counselling, possibilities of prenatal diagnosis, and opportunities for selecting patients with risk of gonad cancers, for extirpation.
对涉及性染色体的结构性染色体异常进行分子分析，为我们提供了有关人类性别决定的新知识。这引发了三种性分化假说，尽管这些假说都无法解释所有相关异常情况，但仍将对其进行讨论。正常情况下在男性减数分裂细胞分裂过程中发生的减数分裂重组，如果交叉异常，可能会导致性反转综合征，如XX男性和XY女性。对这些异常情况的分析使得在Y染色体上定位性别决定区域并构建缺失图谱成为可能。使用DNA探针的方法能够识别性反转患者中的Y特异性序列。这意味着可以提供更优化的咨询服务、进行产前诊断的可能性，以及为有性腺癌风险的患者选择进行切除手术的机会。
