530例中国汉族人口δ-氨基乙酰丙酸脱水酶基因多态性分析

The gene polymorphism of δ-aminolevulinate dehydratase (ALAD) in 530 cases of Chinese Han population

目的 了解汉族人口中δ 氨基乙酰丙酸脱水酶 (ALAD)等位基因和基因型的分布的背景资料。方法 采集 5 30名中原地区汉族人口的血液样品 ,采用聚合酶链反应 限制性片段长度多态性方法对ALAD基因多态性进行基因分析。结果 在中国汉族人口中ALAD1 1纯合子基因型占93 5 8% ,ALAD1 2 杂合子占 6 2 3% ,而ALAD2 2 纯合子仅占 0 19%。ALAD1和ALAD2 等位基因频率分别为 0 96 7和 0 0 33。结论 中国汉族人口的ALAD2 等位基因频率与文献报道的亚洲人群的结果相近 。

Objective To explore the distribution of allele and genotype frequencies of δ aminolevulinate dehydratase (ALAD) gene in Chinese Han population Methods Blood specimens were collected from 530 unrelated Han individuals in the Central Plain of China The ALAD genotype was determined using polymerase chain reaction restriction fragment length polyporphism (PCR RFLP) method. Results The frequencies of genotype in Chinese Han ethinc were 93 58% (496) for the ALAD 1 1 homozygote,6 23% (33) for the ALAD 1 2 heterozygotes and 0 19% (1) for the ALAD 2 2 homozygote, respectively The allele frequencies of the ALAD 1 and ALAD 2 were 0 967 and 0 033, respectively. Conclusion The frequency of the ALAD 2 allele in Chinese Han population was similar to that in Asian populations and lower than that in Caucasian population