Slezak Ryszard, Sasiadek Maria
Zakład Genetyki Akademii Medycznej we Wrocławiu.
Pol Merkur Lekarski. 2002 Sep;13(75):229-33.
Since over 10 years the Y chromosome has been the subject of interest of geneticists. Until now its role has been proven in in male sex determination and development but the function of the remaining genes located on it is still within the sphere of intense research. Studies for identification of location of sequences responsible for normal course of spermatogenesis process in men have been performed since 1970s. It is believed that the factor responsible for these disorders is the gene conventionally called AZF (azoospermia factor) located probably in the euchromatic part of the long arm in Yq11.23 locus. The incidence of Y microdeletion in infertile males ranges from 1 to 55%, according to various authors. Estimated data demonstrate that about 10-15% of cases of azoospermia and about 5-10% of cases of severe oligospermia are caused by Y chromosome microdeletion.
十多年来,Y染色体一直是遗传学家关注的对象。到目前为止,它在男性性别决定和发育中的作用已得到证实,但位于其上的其余基因的功能仍处于深入研究的范畴。自20世纪70年代以来,人们一直在进行研究以确定男性精子发生过程正常进行所涉及序列的位置。据信,导致这些疾病的因素是通常称为AZF(无精子症因子)的基因,它可能位于Yq11.23位点长臂的常染色质部分。根据不同作者的数据,不育男性中Y微缺失的发生率在1%至55%之间。据估计,约10% - 15%的无精子症病例和约5% - 10%的严重少精子症病例是由Y染色体微缺失引起的。