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作 者:张洪洪[1] 岳丽杰[1] 袁秀丽[2] 郑苗苗[1] 胡椿艳[1] 杨春兰[1]
机构地区:[1]遵义医学院深圳儿童医院儿科研究所,广东省深圳市518026 [2]遵义医学院深圳儿童医院血液科,广东省深圳市518026
出 处:《中国肿瘤临床》2012年第4期185-188,共4页Chinese Journal of Clinical Oncology
基 金:国家自然科学基金(编号:30471830);深圳市科技计划项目基金(编号:200802065)资助~~
摘 要:目的:研究γ-谷氨酰水解酶基因(γ-glutamyl hydrolase,GGH)T16C单核苷酸多态性(single nucleotide polymorphism,SNP)在急性白血病(acute leukemia,AL)患儿和正常儿童中的频率分布特征,并以期发现新的多态性位点。方法:应用DNA直接测序技术,对90例AL患儿和120例正常儿童的cDNAs进行GGH T16C基因型的筛查。结果:在GGH的第2外显子发现一新的错义突变T191G,导致第64位氨基酸由亮氨酸(Leu)被色氨酸(Trp)替代。首次鉴定了中国儿童GGH T16C多态性,其在AL患儿及正常儿童中的等位基因频率分别为20.0%和17.1%,两组间的等位基因频率差异无统计学意义(P>0.05),表明与白血病的易感性无相关性。结论:首次确定了国内汉族儿童GGH T16C的等位基因频率,并发现一新的错义突变GGHT191G。Objective: This study aims to investigate the distribution ofy-glutamyl hydrolase gene ( GGH ) T16C genotype and allele frequency in children with acute leukemia ( AL ) and healthy children and to identify the novel single nucleotide polymorphism ( SNP ). Methods: Bone marrow samples from 90 children with AL and peripheral blood samples from 120 healthy children ( controls ) were obtained to prepare complementary DNA ( eDNA ). The eDNA was analyzed for the polymorphism in GGH T16C by direct sequencing. Results: A novel missense mutation was a T--+G transition in the second nucleotide of codon 64 in exon 2 of the GGH gene, which was predicted to result in the substitution of leucine with tryptophan ( Leu 64 Trp ). The T 16C polymorphism in the coding region of the GGH gene was first identified in Chinese children. The T 16C allelic frequency in the AL children was 20 %, whereas that in the control group was 17.1%. The allelic frequency of SNP was not associated with susceptibility to AL. Conclusion: This work is the first report concerning the examination ofT16C polymorphism of GGH in Chinese Han children. A novel GGH gene missense mutation T191G was identified in healthy Chinese children.
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