中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
3期
352-355
,共4页
张洪洪%岳丽杰%陈小文%赵玮%胡椿艳%郑苗苗%杨春兰%谢偲
張洪洪%嶽麗傑%陳小文%趙瑋%鬍椿豔%鄭苗苗%楊春蘭%謝偲
장홍홍%악려걸%진소문%조위%호춘염%정묘묘%양춘란%사시
γ-谷氨酰水解酶基因%单核苷酸多态性%变性梯度凝胶电泳%急性白血病
γ-穀氨酰水解酶基因%單覈苷痠多態性%變性梯度凝膠電泳%急性白血病
γ-곡안선수해매기인%단핵감산다태성%변성제도응효전영%급성백혈병
γ-glutamyl hydrolase gene%Single nucleotide polymorphisms%Denaturing gradient gel electrophoresis%Acute leukemia
目的 研究γ-谷氨酰水解酶( γ-glutamyl hydrolase,GGH)基因452C/T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及分布特征.方法 应用逆转录-PCR-变性梯度凝胶电泳结合DNA直接测序技术,对92例AL患儿和124名正常儿童的cDNAs进行GGH基因第452位点SNP筛查.结果 AL组中GGH 452 TT、CT及CC基因型频率分别为2.2%、13.0%和84.8%;对照组中相应3种基因型频率分别为1.6%、l6.9%和81.5%;两组T等位基因频率分别为8.7%和10.1%;两组间的基因型频率及等位基因频率差异无统计学意义(P>0.05),但中国儿童与日本、非裔-美洲及墨西哥人群的T等位基因频率差异均具有统计学意义(P<0.05).结论 确定了中国汉族儿童GGH 452C/T的等位基因频率,并初步确认GGH 452C/T基因多态性存在种、族差异.
目的 研究γ-穀氨酰水解酶( γ-glutamyl hydrolase,GGH)基因452C/T單覈苷痠多態性(single nucleotide polymorphism,SNP)在急性白血病(acute leukemia,AL)患兒和正常兒童中的頻率及分佈特徵.方法 應用逆轉錄-PCR-變性梯度凝膠電泳結閤DNA直接測序技術,對92例AL患兒和124名正常兒童的cDNAs進行GGH基因第452位點SNP篩查.結果 AL組中GGH 452 TT、CT及CC基因型頻率分彆為2.2%、13.0%和84.8%;對照組中相應3種基因型頻率分彆為1.6%、l6.9%和81.5%;兩組T等位基因頻率分彆為8.7%和10.1%;兩組間的基因型頻率及等位基因頻率差異無統計學意義(P>0.05),但中國兒童與日本、非裔-美洲及墨西哥人群的T等位基因頻率差異均具有統計學意義(P<0.05).結論 確定瞭中國漢族兒童GGH 452C/T的等位基因頻率,併初步確認GGH 452C/T基因多態性存在種、族差異.
목적 연구γ-곡안선수해매( γ-glutamyl hydrolase,GGH)기인452C/T단핵감산다태성(single nucleotide polymorphism,SNP)재급성백혈병(acute leukemia,AL)환인화정상인동중적빈솔급분포특정.방법 응용역전록-PCR-변성제도응효전영결합DNA직접측서기술,대92례AL환인화124명정상인동적cDNAs진행GGH기인제452위점SNP사사.결과 AL조중GGH 452 TT、CT급CC기인형빈솔분별위2.2%、13.0%화84.8%;대조조중상응3충기인형빈솔분별위1.6%、l6.9%화81.5%;량조T등위기인빈솔분별위8.7%화10.1%;량조간적기인형빈솔급등위기인빈솔차이무통계학의의(P>0.05),단중국인동여일본、비예-미주급묵서가인군적T등위기인빈솔차이균구유통계학의의(P<0.05).결론 학정료중국한족인동GGH 452C/T적등위기인빈솔,병초보학인GGH 452C/T기인다태성존재충、족차이.
[Objective]To investigate the distribution of γ-glutamyl hydrolase gene (GGH) 452C/Tgenotype and allele frequency in children with acute leukemia (AL) and healthy children.[Methods] Bone marrow samples from 92 children with AL and peripheral blood samples from 124 healthy children were obtained to prepare complementary DNAs (cDNAs).The cDNAs were analyzed for a GGH 452C/T polymorphism by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis (RT-PCR-DGGE) and direct sequencing.[Results] The frequencies of the AL patients with TT,CT and CC genotypes were 2.2 %,13.0 % and 84.8 %,and the frequencies of the control children were 1.6 %,16.9 % and 81.5%,respectively.There was no significant difference in GGH genotype or T allele frequency between the two groups (P> 0.05).However,the T allele frequency in Han Chinese children was significantly different from those reported in Japanese,Mexican and African-American populations.[Conclusion] The frequency of 452C/T polymorphism of GGH gene in Han Chinese children has been determined.The results suggested that an ethnic difference may exist.