【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。更多还原

【Abstract】 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 ALAD1 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.更多还原