摘要
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 explore the distribution and significance of haplotypes of microsatellite DNA (D13S314, D13S301 and D13S316 ) closely related to ATP7B in normal population, Wilson disease (WD) patients and heterozygotes. Methods Using three well characterized short tandem repeat markers of fluorescence labelling (D13S301, D13S314 and D13S316), localization and sequence were studied with Genotype TM software in 71 WD patients and 123 WD parents. Results Based on the analysis of haplotypes of D13S314, D13S01 and D13S316, 19, 20 and 15 alleles were obtained in the 71 patients with WD, 123 carriers and 54 normal persons, respectively. The size of segments was 134 157 bp, 128 156 bp, and 136 154 bp, respectively. Heterozygosity was 0.79 , 0.82 and 0.23 , respectively. There was significant difference in the distribution of alleles of D13S314, D13S301 and D13S316 makers between the WD patients and normal persons (9 alleles were noted in D13S314 maker, 9 alleles in D13S301 maker and 4 alleles in D13S316 maker)(P< 0.05 or 0.01 ). There were 81 haplotypes. Of them, 12 6 5, 15 10 5, 6 10 5 and 6 14 5, the commonest haplotypes, accounted for 5.2% , 4.5% , 4.5% and 3.7% respectively; 12 8 5, 12 9 5 and 6 16 5 separately accounted for 3.0% ; 13 10 8, 6 13 5, 6 14 13 and 6 9 5 separately accounted for 2.2% . Conclusions The complexity of haplotypes may be related to the complexity of mutation spectrum of ATP7B. The haplotype analysis of D13S314 D13S301 D13S316 is very valuable in making a diagnosis of WD, especially in presymptomatic patients. It is also useful for prenatal diagnosis of WD.
出处
《中国当代儿科杂志》
CAS
CSCD
2002年第6期448-452,共5页
Chinese Journal of Contemporary Pediatrics
基金
教育部<高等学校骨干教师资助计划>资助 (2 0 0 0 )
