CAJ | 학술논문

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530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93.58％，ALAD1-2杂合子占6.23％，而ALAD2-2纯合子仅占0.19％。ALAD1和ALAD2等位基因频率分别为0.967 和 0.033。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，而低于高加索人口。
목적료해한족인구중δ-안기을선병산탈수매(ALAD)등위기인화기인형적분포적배경자료。방법채집530명중원지구한족인구적혈액양품，채용취합매련반응-한제성편단장도다태성방법대ALAD기인다태성진행기인분석。결과재중국한족인구중ALAD1-1순합자기인형점93.58％，ALAD1-2잡합자점6.23％，이ALAD2-2순합자부점0.19％。ALAD1화ALAD2등위기인빈솔분별위0.967 화 0.033。결론중국한족인구적ALAD2등위기인빈솔여문헌보도적아주인군적결과상근，이저우고가색인구。
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 ALAD1-1 homozygote，6.23％ (33) for the ALAD1-2 heterozygotes and 0.19％ (1) for the ALAD2-2 homozygote， respectively.The allele frequencies of the ALAD1 and ALAD2 were 0.967 and 0.033， respectively.Conclusion　The frequency of the ALAD2 allele in Chinese Han population was similar to that in Asian populations and lower than that in Caucasian population.