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常染色体显性遗传小眼球病与12个微卫星多态标志的初步连锁分析 被引量：1

PRELIMINARY LINKAGE ANALYSIS ON AUTOSOMAL DOMINANT MICROPHTHALMIA WITH 12 MICROSATELLITE MARKERS
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摘要 本文报道了一个常染色体显性遗传小眼球的大家系,初步排除了此家系致病基因在目前已知位点(CHX10、MITF、RX、MCOP、NNO1、NNO2)的可能,并探讨了与11号染色体上的微卫星DNA标志的连锁关系。采用聚合酶链(PCR)扩增微卫星DNA片段,扩增产物进行聚丙烯酰胺凝胶电泳,用银染显示结果;用MLINK连锁分析软件计算LOD值。结果显示,本家系小眼球致病基因与6个已知位点及11号染色体上的微卫星DNA标志之间不存在连锁,提示此家系的致病位点目前尚未被定位。 In this preliminary study a Chinese autosomal dominant microphthalmia family were investigated and the linkage analyses were performed with six previously reported loci (CHX10, MITF, RX, MCOP, NNO1, NNO2) and six microsatellite markers on chromosome 11 as well. The allelic polymorphisms of those microsatellite markers were identified by using polymerase chain reaction, polyacrylamide gel electrophoresis and silver-staining techniques. The LOD scores between microsatellite markers and the disease were obtained by using MLINK software. Our results showed that the linkage between the microphthalmia in this family with the 6 known loci could be excluded, indicating that the defect gene in this microphthalmia family was probably distinct from those of previously reported microphthalmia families.
作者 俞萍 周强 郭磊 周永明 罗媛媛 章润月 闫小毅 丁可平 洪子福 张玉柱
机构地区 浙江大学医学院医学遗传学教研室 浙江富阳中医骨伤科医院 浙江象山县石浦中心卫生院
出处 《实验生物学报》 CSCD 北大核心 2004年第2期85-90,共6页 Acta Biologiae Experimentalis Sinica
基金 浙江大学医学院中青年科技启动基金
关键词 常染色体 显性遗传 小眼球病 微卫星DNA标志 眼科疾病 致病基因 Gene. Linkage. Microsatelite markers. Chromosome
分类号 R771 [医药卫生—眼科]
  • 相关文献

参考文献16

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同被引文献15

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  • 7Hanson I M.PAX6 and congenital eye malformations.Pediatr Res,2003,54:791-796
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  • 9Ragge N K,Lorenz B,Schneider A,et al.SOX2 anophthalmia syndrome.Am J Med Genet,2005,135A:1-7
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实验生物学报
2004年 第2期

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