Shanghai Human Sperm Bank, Renji Hospital, Shanghai Institute of Andrology, Shanghai Jiao Tong University School of Medicine, China.
Asian J Androl. 2010 Mar;12(2):240-6. doi: 10.1038/aja.2009.63. Epub 2009 Dec 14.
This study was carried out to analyze the vertical transmission of Yq AZFc microdeletions from father to son in infertile Han Chinese families to investigate genetic factors and family background affecting fertility status. The peripheral blood of infertile males in 19 Han families was extracted and screened with modified multiplex polymerase chain reaction (PCR). Family trees were drawn according to fertility status and clinical characteristics of the subjects. The vertical transmission of Yq AZFc microdeletions was detected in six cases of 19 investigated families (31.6%, 6/19). Although both fathers and sons showed a similar type of Yq AZFc deletion, the fathers were fertile, whereas the sons were infertile and showed severe oligozoospermia. The vertical transmission of Yq AZFc microdeletion from fertile fathers to infertile sons over generations is not rare. This has different effects on fertility status in fathers and sons in Han Chinese families. Both genetic factors and family background affect spermatogenetic phenotypes.
本研究旨在分析 Yq AZFc 微缺失从父亲到儿子的垂直传递，以探讨影响生育状况的遗传因素和家庭背景。从 19 个汉族不育男性家庭中提取外周血，采用改良多重聚合酶链反应（PCR）进行筛选。根据受检者的生育状况和临床特征绘制家系图。在 19 个被调查家庭中的 6 例（31.6%，6/19）中检测到 Yq AZFc 微缺失的垂直传递。虽然父亲和儿子都表现出相似类型的 Yq AZFc 缺失，但父亲是生育能力正常的，而儿子则是不育的，表现为严重少精症。Yq AZFc 微缺失从生育能力正常的父亲到不育的儿子在几代人中的垂直传递并不罕见。这对汉族家庭中父亲和儿子的生育状况有不同的影响。遗传因素和家庭背景都影响精子发生表型。
