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常染色体显性多囊肾一家系男性患者AZF微缺失研究 被引量：2

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摘要 目的通过对一常染色体显性多囊肾家系男性患者进行AZF微缺失检测,了解其AZF基因缺失情况及不育原因。方法用聚合酶链反应技术扩增ADPKD家系男性成员sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255等8个AZF位点,并以X/Y连锁锌指蛋白基因(ZFX/Y)为内对照。结果家系中1例严重少弱精子症男性患者存在sY254缺失。结论该ADPKD家系男性患者AZF微缺失可能与其精子生成障碍相关。
作者 贾颐舫 杨丹彤 张爱东 盖凌 张美华 张艳萍 许观照 吴爱华 邱毅
机构地区 山东省计划生育科学技术研究所山东省优生技术重点实验室
出处 《中国优生与遗传杂志》 2011年第11期12-13,共2页 Chinese Journal of Birth Health & Heredity
基金 山东省自然科学基金(Q2003C02)
关键词 常染色体显性多囊肾 AZF微缺失 家系
分类号 R692.1 [医药卫生—泌尿科学]
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参考文献8

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二级参考文献25

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共引文献15

同被引文献42

  • 1熊承良,商学军,刘继红主编.人类精子学.北京:人民卫生出版社,2013.121.
  • 2张新东,金保方.精囊在男性生殖和性功能中的作用[J].中华男科学杂志,2007,13(12):1113-1116. 被引量：7
  • 3Braun WE. Advances in autosomal dominant polycystic kidney disease--2014 and beyond. Cleve Clin J Med, 2014, 8l (9) : 545-556.
  • 4Torres VE, Harris PC, Pirson Y. Autosomal dominant polycysti( kidney disease. Lancet, 2007, 369 (9569): 1287-1301.
  • 5Torres VE, Harris PC. Autosomal dominant polycystie kidney disease : The last 3 years. Kidney Int, 2009, 76 (2) : 149-168.
  • 6Torres VE, Harris PC. Polycystie kidney disease: Genes, pro- reins, animal mode]s, disease mechanisms and therapeutic op- portunities. J Intern Med, 2007, 261 (1) : 17-31.
  • 7Torra R, Sarquella J, Calabia J, et al. Prevalence of cysts in se- minal tract and abnormal semen parameters in patients with auto- somal dominant polycystic kidney disease. Clin J Am Sac Neph- rol, 2008, 3 (3) : 790-793.
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  • 9Wtithrich RP, Mei C. Aquaretic treatment in polycystic kidney disease. N Engl J Med, 2012, 367 (25): 2440-2442.
  • 10Luciano RL, Dalai NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD) : Considerations for routine screening and management. Nephrol Dial Transplant, 2014, 29 (2) : 247-254.

引证文献2

二级引证文献7

中国优生与遗传杂志
2011年 第11期

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