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)(< 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."/>
与ATP7B基因紧密连锁的微卫星DNA单体型在汉族Wilson病的多态性分析
Abstract：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)(< 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.
LIU Xiao-Qing,ZHANG Ya-Fen,GU Xue-Fan et al. Polymorphism of ATP7B Related Microsatellite DNA Haplotypes in the Ethnic Han Chinese with Wilson Disease[J]. CJCP, 2002, 4(6): 448-452.
