维生素D受体基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性研究

凯赛尔?阿吉,宋光鲁,安尼瓦尔?牙生,拜合提亚?阿扎提,哈木拉提?吐送

中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (12) : 956-959.

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (12) : 956-959.
论著·临床研究

维生素D受体基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性研究

  • 凯赛尔?阿吉,宋光鲁,安尼瓦尔?牙生,拜合提亚?阿扎提,哈木拉提?吐送
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Association of vitamin D receptor gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China

  • Kaysar AJI, SONG Guang-Lu, Anwar YASEN, Bahtiyar AZAD, Halmurat TURSUN
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摘要

目的:探讨维生素D受体(VDR)基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性,阐明分子遗传学规律。方法:维吾尔族尿路结石患儿(病例组)74例和维吾尔族正常儿童(对照组)103例纳入此研究,应用聚合酶链反应-限制性片段长度多态性分析研究VDR基因FokI和ApaI位点多态性与新疆南部地区维吾尔族儿童尿路结石相关性。结果:VDR基因FokI位点FF、Ff、ff 3种基因型在病例组及对照组之间分布差异有统计学意义(χ2=7.818, P<0.05),基因型Ff在病例组占58%,明显高于对照组,差异有统计学意义(P<0.05)。VDR基因ApaI位点AA、Aa、aa 3种基因型在病例组和对照组的分布差异无统计学差意义(P>0.05)。结论:VDR基因FokI位点多态性将来可作为维吾尔族儿童泌尿系结石的候选基因。

Abstract

OBJECTIVE: To investigate the association of vitamin D receptor (VDR) gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China, and to clarify the molecular genetic mechanism for the disease. METHODS: Seventy-four Uygur children with urolithiasis (case group) and 103 healthy Uyghur children (control group) were enrolled as subjects. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the association of VDR gene FokI and ApaI polymorphisms with urolithiasis in Uyghur children from southern Xinjiang. RESULTS: There were significant differences in FokI genotypes (FF, Ff and ff) between the case and control groups (χ2=7.818, P<0.05). The genotype Ff accounted for 58% of all genotypes in the case group, and Ff was significantly more prevalent in the case group than in the control group (P<0.05). There were no significant differences in ApaI genotypes (AA, Aa, and aa) between the case and control groups. CONCLUSIONS: The polymorphisms of VDR gene FokI may be a suitable genetic marker for urolithiasis in Uyghur children.

关键词

尿路结石 / VDR基因 / 等位基因多态性 / 维吾尔族 / 儿童

Key words

Urolithiasis / VDR gene / Polymorphism / Uyghur / Child

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凯赛尔?阿吉,宋光鲁,安尼瓦尔?牙生,拜合提亚?阿扎提,哈木拉提?吐送. 维生素D受体基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性研究[J]. 中国当代儿科杂志. 2012, 14(12): 956-959
Kaysar AJI, SONG Guang-Lu, Anwar YASEN, Bahtiyar AZAD, Halmurat TURSUN. Association of vitamin D receptor gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(12): 956-959
中图分类号: R726.9   

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