CAJ | 학술논문

背景与目的:探讨汉族、维族和哈族儿童δ-氨基-γ酮戊酸脱水酶(ALAD)、维生素D受体(VDR)基因多态性及其与铅中毒遗传易感性的关系. 材料与方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对新疆乌鲁木齐市的489名汉族、499名维族和525名哈族儿童ALAD、VDR基因多态性进行分析. 结果:ALAD、VDR不同基因型在汉、维、哈族中分布的差异均具有统计学意义(P<0.01).对VDR基因的3个等位基因位点BsmI、Taq I和却Apa I单体型分析发现,汉族儿童中单体型Atb、AtB在铅中毒组显著降低(P<0.01),而单体型ATb、aTb在铅中毒组显著增高(P<0.05).其它民族单体型分析未显示统计学意义(P>0.05).结论:ALAD、VDR不同基因型分布具有种族差异;在汉族儿童中,单体型Atb和AtB可能是铅中毒的保护因素,而单体型ATb和aTb可能是铅中毒的危险因素.
배경여목적:탐토한족、유족화합족인동δ-안기-γ동무산탈수매(ALAD)、유생소D수체(VDR)기인다태성급기여연중독유전역감성적관계. 재료여방법:채용취합매련식반응-한제성편단장도다태성(PCR-RFLP)방법대신강오로목제시적489명한족、499명유족화525명합족인동ALAD、VDR기인다태성진행분석. 결과:ALAD、VDR불동기인형재한、유、합족중분포적차이균구유통계학의의(P<0.01).대VDR기인적3개등위기인위점BsmI、Taq I화각Apa I단체형분석발현,한족인동중단체형Atb、AtB재연중독조현저강저(P<0.01),이단체형ATb、aTb재연중독조현저증고(P<0.05).기타민족단체형분석미현시통계학의의(P>0.05).결론:ALAD、VDR불동기인형분포구유충족차이;재한족인동중,단체형Atb화AtB가능시연중독적보호인소,이단체형ATb화aTb가능시연중독적위험인소.
BACKGROUND AND AIM: To explore the polymorphisms of δ-aminolevulinic acid dehydratase(ALAD), vitamin D receptor(VDR) and genetic susceptibility of lead posioning in Han, Uygur and Kazak children. MATERIALS AND METHODS: The ALAD and VDR genotypings were determined by PCR-RFLP in 489 Han, 499 Uygur and 525 Kazak individuals from Urumqi city of Xinjiang province. RESULTS: The genotype frequencies of ALAD and VDR showed significant differences in Han, Uygur and Kazak subjects (P<0.01) . According to VDR- Bsml^ Tag I and Apa I haplotype analysis, haplotype Atb and AtB in Han were considerately decreased in lead poisoning group(P < 0.05) while haplotype aTb and Atb significantly increased in lead poisoning group (P < 0.01) .However, such results were not found in Uygur and Kazak (P>0.05). CONCLUSION: A significant difference was seen in the frequency distribution of ALAD and VDR genotype among the different races. Haplotype Atb and AtB might be protective factors while haplotype Atb and aTb might be risk factors in Han.