中国维吾尔族和彝族人群δ-氨基乙酰丙酸脱水酶基因多态性与铅遗传易感性的关系

目的　探讨我国维吾尔族、彝族人群δ 氨基乙酰丙酸脱水酶 (ALAD)基因多态性与铅遗传易感性的关系。方法　采用多聚酶链式反应 (PCR)和限制性内切酶 (MspI)限制性片断长度多态性(RFLP)方法分析 2 14名新疆维吾尔族人和 14 4名云南彝族人的ALAD基因多态性及等位基因分布 ;运用单因素和多因素分析探讨了维吾尔族和彝族人群ALAD基因多态性与血铅水平的相关关系 ,及影响血铅水平的因素。结果　维族人群ALAD1和ALAD2 等位基因分布频率分别是 0 .91和 0 .0 9;彝族人群ALAD1和ALAD2 等位基因频率分别是 0 .98和 0 .0 2。维族人群的血铅均值为 (76± 4 ) μg/L ,血铅≥10 0 μg/L的比例为 2 5 .7% ;彝族人群的血铅均值为 (5 0± 16 ) μg/L ,血铅≥ 10 0 μg/L的比例为 6 .3%。未见本研究人群ALAD等位基因的多态性与血铅水平有相关关系。结论　ALAD基因多态性对铅毒性影响的方式可能与机体铅的负荷量密切相关

The polymorphism of δ-aminolevulinic acid dehydratase and genetic susceptibility to lead toxicity in Uighur and Yi population in China

OBJECTIVE: To investigate the polymorphism of delta-aminolevulinic acid dehydratase(ALAD) and the genetic susceptibility to lead toxicity in Uighur and Yi population in China. METHODS: The ALAD genotypes were determined by PCR and MspI restriction fragment length polymorphism techniques in 214 Uighur individuals from Xinjiang autonomous region and 144 Yi individuals from Yunnan province. The correlation between the polymorphism of ALAD and blood lead levels, and the factors affecting the latter were explored. RESULTS: The frequencies of the allele ALAD1 and ALAD2 in Uighur are 0.91 and 0.09; and in Yi are 0.98 and 0.02 respectively. In Uighur the average blood lead level was (76 +/- 4) microgram/L, and 25.7% individuals with blood lead level > or = 100 micrograms/L. In Yi the average blood lead level was (50 +/- 16) microgram/L, and 6.3% individuals with blood lead level > or = 100 micrograms/L. However, no statistic correlation between the distribution of ALAD alleles and the blood lead level was found in both populations. CONCLUSION: The genetic susceptibility of ALAD polymorphism to lead toxicity may exhibit in a lead dose-dependent manner.