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D13S26位点位于13q21.1~q21.2,与Wilson病基因位点相距约3.8分摩(centimor-gan,cm).中国人D13S26位点的多态等位片段与白种人相同,但各等位片段的频率两者差异明显,中国人HphI酶切点的多态信息最高,杂合率约0.5。应用D13S26位点对3个Wilson病家系进行连锁分析,证实D13S26/HphI可用于Wilson病的症状前诊断。
The D13S26 locus is located at 13q21.1 ~ q21.2, which is about 3.8 centimor-gan (cm) away from the Wilson’s disease gene locus. The polymorphic allelic region of D13S26 locus in Chinese is the same as that of Caucasians The frequencies of the allelic fragments were significantly different. The polymorphism information of Chinese HphI sites was the highest with the heterozygosity rate of about 0.5. Using D13S26 loci to analyze the linkage relationship of three Wilson’s pedigrees, it was confirmed that D13S26 / HphI could be used for the pre-symptom diagnosis of Wilson’s disease.