汉族、维吾尔族和哈萨克族儿童δ-氨基-γ-酮戊酸脱水酶基因多态性分析  

The genetic polymorphism of δ-aminolevulinic acid dehydratase (ALAD) in Han,Uygur and Kazak population in Xinjiang

作　　者：陈艳[1] 郑玉建[1] 马龙[1] 赵江霞[1] 崔君 李玲 阿斯娅.克里木 田薇[1] 

机构地区：[1]新疆医科大学公共卫生学院,新疆乌鲁木齐830000 [2]乌鲁木齐市儿童卫生保健所,新疆乌鲁木齐830000

出　　处：《新疆医科大学学报》2007年第5期455-457,共3页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区高校科研启动基金(XJEDU2004S16);乌鲁木齐市科技局科研基金(Y043211)

摘　　要：目的:探讨汉族、维吾尔族和哈萨克族儿童δ-氨基-γ-酮戊酸脱水酶(ALAD)基因多态性和等位基因的分布规律。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)法对新疆乌鲁木齐市相互间无血缘关系的469例汉族、443例维吾尔族和516例哈萨克族儿童ALAD基因多态性进行分析。结果:在汉族人群中,ALAD1-1纯合子基因型占91.68%,ALAD1-2杂合子基因型占8.10%,ALAD2-2变异纯合子基因型占0.22%,ALAD1和ALAD2等位基因频率分别为95.73%和4.27%;在维吾尔族人群中,ALAD1-1纯合子基因型占81.94%,ALAD1-2杂合子基因型占17.16%,ALAD2-2变异纯合子基因型占0.90%;ALAD1和ALAD2等位基因频率分别为90.52%和9.48%;在哈萨克族人群中,ALAD1-1纯合子基因型占83.33%,ALAD1-2杂合子基因型占15.89%,ALAD2-2变异纯合子基因型占0.78%;ALAD1和ALAD2等位基因频率分别为91.28%和8.72%。结论:维吾尔族和哈萨克族儿童ALAD2等位基因分布明显高于汉族儿童,与欧洲白人的ALAD2等位基因分布相近。Objective： To explore the genetic polymorphism and the distribution of allelic frequencies of δ- aminolevulinic acid dehydratase （ALAD） in Han, Uygur and Kazak population in Xinjiang. Methods： The ALAD genotyping was determined by PCR-RFLP in 469 unrelated Han, 443 unrelated Uygur and 516 unrelated Kazak individuals from Urumqi, Xinjiang. Results： The percentage of ALAD1-1 homozygote was 91.68%, ALAD1 -2 heterozygotes was 8. 10% and ALAD2-2 homozygote was 0. 22% in Han subjects. The frequencies of the allele ALAD1 and ALAD2 were 95.73% and 4.27%, respectively. The percentage of ALAD1 =1 homozygote was 81.94%, ALAD1-2 heterozygotes was 17.16% and ALAD2-2 homozygote was 0. 90% in Uygur subjects. The frequencies of the allele ALAD1 and ALAD2 were 90. 52% and 9.48%, respectively. The percentage of ALAD1-1 homozygote was 83. 33%, ALAD1-2 heterozygotes was 15. 89% and ALAD2-2 homozygote was 0. 78% in Kazak subjects. The frequencies of the allele ALAD 1 and ALAD2 were 91.28% and 8. 72%, respectively. Conclusion： The frequency of the ALAD2 allele in Uygur and Kazak was similar to that in Caucasian population, and higher than Han population.

关 键 词：δ-氨基-γ-酮戊酸脱水酶 基因多态性 儿童 

分 类 号：R153.2[医药卫生—营养与食品卫生学]