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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。
This paper reports a pedigree of autosomal dominant small eyeballs that initially ruled out the possibility of the causative genes of this family at the currently known sites (CHX10, MITF, RX, MCOP, NNO1, NNO2) Chromosome microsatellite DNA markers of the chain relationship. The microsatellite DNA fragments were amplified by polymerase chain reaction (PCR). The products were amplified by polyacrylamide gel electrophoresis and the results were displayed by silver staining. The LOD values were calculated by MLINK linkage analysis software. The results showed that there was no linkage between microsatellite DNA markers of 6 minor alleles and microsatellite DNA markers on chromosome 11 in this family, suggesting that the pedigree of this pedigree has not been mapped yet.