A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data.
A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data.
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DOI：
10.1016/j.legalmed.2004.07.001
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发表时间：
2004-10-01
期刊：
影响因子：
--
通讯作者：
Kishi, Koichiro
中科院分区：
文献类型：
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作者：
Yasuda, Toshihiro;Iida, Reiko;Kishi, Koichiro
这项研究证实了一种新的可变数目的串联重复多态性，命名为HumDN 1，在人类脱氧核糖核酸酶I（DNase I）基因的内含子4的存在。基因分型进行了毫无困难的PCR扩增和分离琼脂糖凝胶电泳在423日本，来自日本的四个地理不同的地区，和89名德国人。HumDN 1等位基因的变异性是由于不同数量的56-bp重复序列，和5个不同的等位基因区分与364和588 bp之间的表观大小。虽然在日本人群中的多态性有一个普遍的一致性，在日本和德国人群之间的基因型分布的显着差异。此外，HumDN 1和DNase I蛋白质多态性之间的连锁不平衡被揭示。
This study confirms the presence of a novel variable number of tandem repeats polymorphism, designated as HumDN1, in intron 4 of the human deoxyribonuclease I (DNase I) gene. Genotyping was performed without difficulty by PCR-amplification and separation by agarose gel electrophoresis in 423 Japanese, originating from four geographically diverse areas in Japan, and 89 Germans. The HumDN1 allele variability was due to different numbers of 56-bp repeat sequences, and five different alleles were distinguished with apparent size between 364 and 588 bp. Although there was a general uniformity for the polymorphism in the Japanese population, significant differences in genotype distribution were found between the Japanese and German populations. Furthermore, linkage disequilibrium between the HumDN1 and DNase I protein polymorphisms was revealed.