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Abstract

Asian Journal of Andrology (2010) 12: 240-246. doi: 10.1038/aja.2009.63; published online 7 December 2009.

Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families

Xiao-Bin Zhu1, Yu-Lin Liu1, Wei Zhang1, Ping Ping1, Xiao-Rong Cao1, Yong Liu1, Yi-Ran Huang1 and Zheng Li1

1 Shanghai Human Sperm Bank, Renji Hospital, Shanghai Institute of Andrology, Shanghai Jiao Tong University School of Medicine, Shanghai 200001, China

Correspondence: Prof. Zheng Li, Department of Urology, Shanghai Institute of Andrology, Shanghai Human Sperm Bank, Shanghai Jiao Tong University School of Medicine, Shanghai 200001, China. Fax: +86-21-6373-2926 E-mail: doc.zheng.li@gmail.com

Received 13 April 2009; Revised 29 June 2009; Accepted 2 September 2009; Published online 14 December 2009.

Abstract
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.

Keywords: infertility; microdeletion; vertical transmission; Y chromosome

 

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