A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia.
A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia.
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HPRT基因TCTA四核苷酸多态性与原发性高尿酸血症关系的研究
DOI：
10.4238/2011.december.15.3
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发表时间：
2011
影响因子：
0.4
通讯作者：
S. B. Li
中科院分区：
文献类型：
--
作者：
Y. Zhu;S. Wei;R. Sun;J. Feng;W. Kuang;J. Lai;S. B. Li
我们检测了宁夏汉族人群次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）基因第3内含子TCTA四核苷酸序列的多态性。我们还寻找了在HPRT基因第3内含子STR多态性与原发性高尿酸血症之间的可能关系。采用Chelex-100提取DNA，PCR、PAGE、银染等方法进行等位基因分型和DNA测序，获得等位基因的分布情况。首次发现HPRT基因第3内含子存在高度的STR多态性。在宁夏汉族人群中检测到5个STR等位基因，女性有15种基因型，男性和女性的等位基因和基因型在对照组和患者组中的分布差异均有统计学意义。发现HPRT基因第3内含子中TCTA重复的等位基因与原发性高尿酸血症相关;因此，这些等位基因可能被认为是原发性高尿酸血症的危险因素。
We examined polymorphism of the TCTA tetranucleotide sequence in the 3rd intron of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the Han population of Ningxia Province in China. We also looked for a possible relationship between STR polymorphism in the 3rd intron of the HPRT gene and primary hyperuricemia. We used Chelex-100 to extract DNA, then PCR, PAGE and silver staining for allele genotyping and DNA sequencing to obtain the distribution of the alleles. We found, for the first time, that there is high STR polymorphism in the 3rd intron of the HPRT gene. We detected 5 STR alleles in this intron in the Han population of Ningxia Province, with 15 genotypes in females; significant differences were observed in the distribution of alleles and genotypes between control and patient groups for both males and females. Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia.
HPRT 缺陷的分子分析：亚洲突变谱的更新与新突变
DOI：
--
发表时间：
2007
期刊：
Molecular Genetics and Metabolism 90・1
影响因子：
--
作者：
Yamada Y;et al.
通讯作者：
et al.