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目的 了解与ATP7B基因紧密连锁的微卫星DNA(D13S314 ,D13S30 1和D13S316 )单体型在正常人、Wilson病 (WD)患者及其杂合子的分布特点及意义。方法 采用荧光标记 3个短串联重复标记 (D13S314 ,D13S30 1和D13S316 ) ,测序定位和GenotypeTM 软件技术分析 71例WD患者和 12 3位父母的单体型。结果 在D13S314 ,D13S30 1和D13S316位点分析中得到 71例WD患者和 12 3位携带者及 5 4例正常个体等位基因片段 ;片段大小分别为 134～ 15 7bp,12 8～ 15 6bp 和 136～ 15 4bp;获得等位基因数分别为 19,2 0和 15个 ;3个位点的杂合率分别是 0 .79,0 .82和 0 .2 3。D13S314 ,D13S30 1和D13S316位点的等位基因分布在WD患者和正常人群之间明显不同 ,其中D13S314和D13S30 1位点显示各有 9个等位基因片段存在明显差异 (P <0 .0 5 ) ,D13S316位点显示有 4个等位基因片段存在明显差异 (P <0 .0 1) ;显示的 81种单体型中以 12 6 5 ,15 10 5 ,6 10 5和 6 14 5最多见 ,分别占 5 .2 % ,4 .5 % ,4 .5 %和 3.7% ,其次为 12 8 5 ,12 9 5和 6 16 5 ,各占 3.0 % ,13 10 8,6 13 5 ,6 14 13和 6 9 5各占 2 .2 %。结论 单体型的类型较多可能和基因突变的类型多样化相关 ,D13S314 D13S30 1 D13S316的单体型分析对WD的诊?
Objective To investigate the distribution and significance of haplotypes of microsatellite DNA (D13S314, D13S30 1 and D13S316) closely linked to ATP7B gene in normal subjects, patients with Wilson’s disease (WD) and their heterozygotes. Methods The haplotypes of 71 patients with WD and 12 3 parents were analyzed by fluorescent labeling of three short tandem repeat markers (D13S314, D13S30 1 and D13S316), sequencing and Genotype TM software. Results A total of 71 WD patients, 12 3 carriers and 54 normal individual alleles were obtained from D13S314, D13S301 and D13S316 loci analysis. The fragment sizes ranged from 134 to 157 bp, from 128 to 15 6bp and from 136 to 136 ~ 15 4bp. The number of alleles obtained was 19, 20 and 15, respectively. The heterozygosity of the three loci were 0.79, 0.82 and 0.23, respectively. The allele distributions at D13S314, D13S30 1 and D13S316 sites were significantly different between WD patients and normal subjects, and there were significant differences in 9 alleles between D13S314 and D13S30 sites (P <0.05) ), D13S316 showed four alleles were significantly different (P <0.01); 81 haplotypes shown to 12 6 5, 15 10 5, 6 10 5 and 6 14 5 most See, accounting for 5.2%, 4.5%, 4.5% and 3.7% respectively, followed by 12 8 5, 12 9 5 and 6 16 5, each representing 3.0%, 13 10 8, 6 13 5, 6 14 13 and 6 9 5 each account for 2.2%. Conclusion The type of haplotype may be related to the diversification of gene mutation. The haplotype analysis of D13S314 D13S30 1 D13S316 in diagnosis of WD