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Y染色体上存在睾丸决定因子(TDF),定位于Ypp11.3区1A1,是一个高度保守基因,Y连锁基因涉及H-Y抗体表达和精子发生。Fisher等人于1990年在Yp上分离出一个导致Turner表型的基因(RSP4Y)。Y染色体最常出现的结构改变是长臂异染色质延长或缺失,其他的异常很少见。并且经常为不稳定。能导致性别发育缺陷、精子发生障碍和身材矮小。曾有报道嵌合型和非嵌合型的Yp缺失呈现不同的表现结果。而非嵌合型的表现型和基因型显示较强的相关性。用Y特异DNA探针进行分子水平分析已
The presence of testicular determinant (TDF) on chromosome Y, located in 1A1 of Ypp11.3, is a highly conserved gene and the Y-linked gene is involved in the expression of H-Y antibodies and in spermatogenesis. In 1990, Fisher et al. Isolated a gene responsible for the Turner phenotype (RSP4Y) at Yp. The most common structural change in the Y chromosome is the prolongation or loss of long-arm heterochromatin. Other abnormalities are rare. And often unstable. Can lead to gender-developmental deficiencies, spermatogenesis disorders and short stature. It has been reported that chimeric and non-chimeric Yp deletions show different performance results. The non-chimeric phenotype and genotype showed strong correlation. Molecular Profiling with Y-specific DNA Probes