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目的初步定位具有花冠状表型的常染色体显性遗传性先天性白内障一家系的致病基因。方法收集家系成员的资料,提取基因组DNA,据文献报道在已知先天性白内障致病基因和位点附近,选择合适的短串联重复序列多态性标记,使用LINKAGE5.1软件计算标准LOD值,对此家系进行连锁分析。结果此表型先天性白内障的致病基因定位在3q22.3-q25.2,即D3S3612至D3S1594之间15.2 cM范围内。在D3S1569和D3S3599处,得到与致病基因位点连锁的最大LOD值均为3.01(重组率=0.00)。结论该花冠状常染色体显性遗传性先天性白内障致病基因初步定位在第3对染色体上3q22.3-q25.2。
Objective To initially locate the causative genes of a pedigree with autosomal dominant inherited congenital cataract with a corolla phenotype. Methods The data of family members were collected and genomic DNA was extracted. According to the literature, suitable short tandem repeat polymorphism markers were selected in the known congenital cataract genes and loci, and the standard LOD values were calculated using LINKAGE5.1 software. Family analysis of this chain. Results The causative gene of this phenotype congenital cataract was located at 3q22.3-q25.2, ie, 15.2 cM between D3S3612 and D3S1594. At D3S1569 and D3S3599, the maximum LOD values for linkage to the causative gene locus were both 3.01 (recombination rate = 0.00). Conclusion The coronavirus autosomal dominant inherited congenital cataract gene located on the first three pairs of chromosome 3q22.3-q25.2.