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Ｄ１３Ｓ３１标记位于Ｄ１３ｑ１４．３，其Ｔａｑ１内切酶切点的等位片段在中国人群中与白种人相同，且等位片段频率差异不明显。通过对７５名中国人正常个体分析，该标记的多态性等位片段频率结果如下：４．６ｋｂ片段的频率为５４％、６．７ｋｂ片段的频率为４６％、４．６ｋｂ／６．７ｋｂ杂合子频率为５３％。通过对１２个肝豆状核变性家系连锁分析，我们证实Ｄ１３Ｓ３１标记位点与肝豆状核变性基因位点存在紧密连锁关系５．１９）。在１２个肝豆状核变性家系４４名同胞中，检出４名症状前患者，１４名杂合子及３名正常纯合子。其结果表明，Ｄ１３Ｓ３１／Ｔａｑ１可用于肝豆状核变性的症状前诊断和杂合子检测。．ＴｈｅＷｉｌｓｏｎ＇ｓｄｉｓ－ｅａｓｅｇｅｎｅｉｓａｐｕｔａｔｉｖｅｃｏｐｐｅｒｔｒａｎｓｐｏｒｔｉｎｇＰ－ｔｙｐｅＡＴＰａｓｅｓｉｍｉｌａｒｔｏｔｈｅＭｅｎｋｅｓｇｅｎｅ．Ｎａ－ｔｕｒｅＧｅｎｅｔ，１９９３，６４：１３
The D13S31 marker was located at D13q14.3, and the allelic fragment of the Taq1 endonuclease cut-point was the same as that of Caucasians in Chinese population. The frequency of allelic fragments was not significantly different. Based on the normal individuals of 75 Chinese individuals, the allelic frequency of the marker polymorphism was as follows: the frequency of the 4.6kb fragment was 54%, the frequency of the 6.7kb fragment was 46%, the size of 4.6kb / 6.7kb Heterozygote frequency is 53%. Through the linkage analysis of 12 Wilson’s disease families, we confirmed that there is a close linkage between the D13S31 marker site and the Wilson’s disease gene locus 5.19). Among the 44 siblings of 12 Wilson’s disease families, 4 pre-symptomatic patients, 14 heterozygotes and 3 normal homozygotes were detected. The results show that, D13S31 / Taq1 can be used for the diagnosis of hepatolenticular degeneration and heterozygous detection. . The Wilson ’s disease-ease gene is tentative coppertransporting P-type ATPases analogs to Menkes gene. Na-ture Genet, 1993, 64:13