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全世界不育夫妇约占已婚育龄夫妇的10%~15%,其中因男性因素导致的约占50%,少精子、弱精子症是造成男性不育或生育力下降的主要原因之一。细胞遗传学和分子生物学等领域的快速发展使得无精子因子(azoospermia factor,AZF)[1]被科学家们广泛认知并接受。AZF位于Y染色体长臂(Yq),这一区域的异常与大多数原发性无精子症密切相关[2],其发生率在男性不育的遗传因素中居第二位,仅次于Klinefelter’s syndrome[克氏综合征,(47,XXY)]。约有10%~20%男性原发无精子与少精子症患者中存在AZF微缺失。
Fertility couples around the world account for about 10% to 15% of married couples of childbearing age, of which about 50% due to male factors, oligospermia, asthenozoospermia is one of the main causes of male infertility or fertility decline. The rapid development in cytogenetics and molecular biology has made azoospermia factor (AZF) [1] widely recognized and accepted by scientists. AZF is located on the long arm of the Y chromosome (Yq). The abnormality in this region is closely related to most primary azoospermia [2]. The incidence of AZF is second only to genetic factors of male infertility, second only to Klinefelter’s syndrome [Klinefelter’s syndrome, (47, XXY)]. AZF microdeletions exist in about 10% to 20% of men with primary azoospermia and oligospermia.