广西师范大学学报（自然科学版） ›› 2013, Vol. 31 ›› Issue (4): 151-154.

• • 上一篇    

三个家族先天性眼球震颤症的调查与遗传分析

林万华1,2, 刘淑元3, 赵林3, 吴昌谋1, 周祖平1,2   

  1. 1.广西师范大学生命科学学院,广西桂林541004;
    2.广西师范大学干细胞与再生医学实验室,广西桂林541004;
    3.广西师范大学校医院,广西桂林541004
  • 收稿日期:2013-08-10 出版日期:2013-12-20 发布日期:2018-11-26
  • 通讯作者: 林万华(1975—),男,江西南康人,广西师范大学教师,博士。E-mail:linwhky@foxmail.com
  • 基金资助:
    国家自然科学基金资助项目(31260285);广西师范大学青年骨干教师科研基金资助项目

Investigation and Genetic Analysis of Three Congenital Nystagmus Pedigree

LIN Wan-hua1,2, LIU Shu-yuan3, ZHAO Lin3, WU Chang-mou1, ZHOU Zu-ping1,2   

  1. 1.College of Life Science,Guangxi Normal University,Guilin Guangxi 541004,China;
    2.Lab for Stem Cell and Regenerative Medicine,Guangxi Normal University,Guilin Guangxi 541004,China;
    3.Affiliated Hospital of Guangxi Normal University,Guilin Guangxi 541004,China
  • Received:2013-08-10 Online:2013-12-20 Published:2018-11-26

摘要： 本文根据广西桂林龙胜县3个家族先天性眼球震颤(头震颤)症的调查与分析结果,绘制相关家系图谱并进行报道。经系谱遗传分析,推测该症在唐氏家族和石氏家族中以不完全外显的X染色体连锁显性遗传;在胡氏家族中其遗传方式符合X染色体连锁隐性遗传方式,但也不排除不完全外显的X染色体连锁显性遗传方式。

关键词: 先天性眼球震颤, 连锁遗传, X染色体

Abstract: Three hereditary congenital nystagmus pedigrees based on investigation and genetic analysis in Longsheng County of Guilin is reported.Deduced from genetic analysis,the Tand family and Shi family may belong to incomplete dominant X-linked hereditary congenital nystagmus,and the Hu family may belong to recessive X-linked or incomplete dominant X-linked hereditary congenital nystagmus.

Key words: hereditary congenital nystagmus, linkage inheritance, X chromosome

中图分类号: 

  • Q39
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