中华地方病学杂志
中華地方病學雜誌
중화지방병학잡지
Chinese Journal of Endemiology
2013年
4期
395-399
,共5页
蔡永林%李军%陈秀勤%李传杰%马宇毅%黄德旺%李海凤%陆爱英%汤敏中
蔡永林%李軍%陳秀勤%李傳傑%馬宇毅%黃德旺%李海鳳%陸愛英%湯敏中
채영림%리군%진수근%리전걸%마우의%황덕왕%리해봉%륙애영%탕민중
地中海贫血%人类白细胞抗原%聚合酶链反应%等位基因频率%遗传易感性
地中海貧血%人類白細胞抗原%聚閤酶鏈反應%等位基因頻率%遺傳易感性
지중해빈혈%인류백세포항원%취합매련반응%등위기인빈솔%유전역감성
Thalassemia%Human leukocyte antigen%Polymerase chain reaction%Allele frequency%Genetic susceptibility
目的 探讨广西梧州汉族人群人类白细胞抗原(HLA)-A和HLA-B等位基因多态性与α-地中海贫血的关系.方法 采用聚合酶链反应-直接测序分型法(PCR-SBT),对广西梧州籍126例汉族α-地中海贫血患者(病例组)和173名正常健康人(对照组)进行HLA-A和HLA-B基因多态性分析.通过等位基因频率和单倍型频率比较,计算α-地中海贫血发生的相对危险度(比值比,OR),分析HLA-A和HLA-B等位基因与梧州汉族人群地中海贫血发生的相关性.结果 病例组HLA-A*33:03、HLA-B*15:01、HLA-B*55:02等位基因频率[15.48％(39/252)、3.17％(8/252)、6.75％(17/252)]显著高于对照组[9.83％(34/346)、0.29％(1/346)、2.31％(8/346)],OR值分别为1.68、11.31、3.06(P均＜0.05)；HLA-B*15:02等位基因频率[7.54％(19/252)]显著低于对照组[12.72％(44/346)],OR值为0.56(P＜ 0.05).HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01单倍型频率[2.38％(6/252)、1.59％(4/252)]显著高于对照组[0.29％(1/346)、0.00％(0/346)],OR值分别为8.41、11.16(P均＜0.05).结论 HLA-A和HLA-B等位基因具有多态性.HLA-A*33:03、HLA-B*15:01、HLA-B*55:02、HLA-B*15:02等位基因发生频率和HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01单倍型发生频率与梧州汉族α-地中海贫血的易感性有关联.
目的 探討廣西梧州漢族人群人類白細胞抗原(HLA)-A和HLA-B等位基因多態性與α-地中海貧血的關繫.方法 採用聚閤酶鏈反應-直接測序分型法(PCR-SBT),對廣西梧州籍126例漢族α-地中海貧血患者(病例組)和173名正常健康人(對照組)進行HLA-A和HLA-B基因多態性分析.通過等位基因頻率和單倍型頻率比較,計算α-地中海貧血髮生的相對危險度(比值比,OR),分析HLA-A和HLA-B等位基因與梧州漢族人群地中海貧血髮生的相關性.結果 病例組HLA-A*33:03、HLA-B*15:01、HLA-B*55:02等位基因頻率[15.48％(39/252)、3.17％(8/252)、6.75％(17/252)]顯著高于對照組[9.83％(34/346)、0.29％(1/346)、2.31％(8/346)],OR值分彆為1.68、11.31、3.06(P均＜0.05)；HLA-B*15:02等位基因頻率[7.54％(19/252)]顯著低于對照組[12.72％(44/346)],OR值為0.56(P＜ 0.05).HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01單倍型頻率[2.38％(6/252)、1.59％(4/252)]顯著高于對照組[0.29％(1/346)、0.00％(0/346)],OR值分彆為8.41、11.16(P均＜0.05).結論 HLA-A和HLA-B等位基因具有多態性.HLA-A*33:03、HLA-B*15:01、HLA-B*55:02、HLA-B*15:02等位基因髮生頻率和HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01單倍型髮生頻率與梧州漢族α-地中海貧血的易感性有關聯.
목적 탐토엄서오주한족인군인류백세포항원(HLA)-A화HLA-B등위기인다태성여α-지중해빈혈적관계.방법 채용취합매련반응-직접측서분형법(PCR-SBT),대엄서오주적126례한족α-지중해빈혈환자(병례조)화173명정상건강인(대조조)진행HLA-A화HLA-B기인다태성분석.통과등위기인빈솔화단배형빈솔비교,계산α-지중해빈혈발생적상대위험도(비치비,OR),분석HLA-A화HLA-B등위기인여오주한족인군지중해빈혈발생적상관성.결과 병례조HLA-A*33:03、HLA-B*15:01、HLA-B*55:02등위기인빈솔[15.48％(39/252)、3.17％(8/252)、6.75％(17/252)]현저고우대조조[9.83％(34/346)、0.29％(1/346)、2.31％(8/346)],OR치분별위1.68、11.31、3.06(P균＜0.05)；HLA-B*15:02등위기인빈솔[7.54％(19/252)]현저저우대조조[12.72％(44/346)],OR치위0.56(P＜ 0.05).HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01단배형빈솔[2.38％(6/252)、1.59％(4/252)]현저고우대조조[0.29％(1/346)、0.00％(0/346)],OR치분별위8.41、11.16(P균＜0.05).결론 HLA-A화HLA-B등위기인구유다태성.HLA-A*33:03、HLA-B*15:01、HLA-B*55:02、HLA-B*15:02등위기인발생빈솔화HLA-A*11:01-B*55:02、HLA-A*02:07-B*40:01단배형발생빈솔여오주한족α-지중해빈혈적역감성유관련.
Objective To investigate the relationship between HLA-A and HLA-B allele polymorphism and α-thalassemia of Han ethnic population in Wuzhou City of Guangxi.Methods By polymerase chain reactionsequence-based typing(PCR-SBT),the HLA-A,HLA-B genetic polymorphisms were determined in 126 patients with α-thalassemia(patient group) of Han ethnic and 173 healthy individuals as control group in Wuzhou City of Guangxi.The relative rick factor (odd ratio,OR) was calculated by allele frequency and haplotype frequency.Results The allele frequencies of HLA-A*33:03,HLA-B* 15:01 and HLA-B*55:02 in the patient group [15.48％ (39/252),3.17％ (8/252) and 6.75％ (17/252)] increased significantly compared with that of the control group [9.83％(34/346),0.29％(1/346) and 2.31％(8/346)]; the value of OR was 1.68,11.31 and 3.06,respectively (all P ＜ 0.05).The allele frequency of HLA-B*15:02 in patient group[7.54％(19/252)] was significantly lower than that in control group[12.72％(44/346)] ; the value of OR was 0.56(P ＜ 0.05).The haplotype frequencies of HLA-A* 11:01-B*55:02 and HLA-A*02:07-B*40:01 were significantly higher in patient group [2.38％ (6/252) and 1.59％(4/252)] than in control group[0.29％(1/346) and 0.00％(0/346)]; the value of OR was 8.41 and 11.16,respectively(all P ＜ 0.05).Conclusions HLA-A and HLA-B loci are highly polymorphisms.The allele frequencies of HLA-A*33:03,HLA-B*15:01,HLA-B*55:02 and HLA-B*15:02,and the haplotype frequencies of HLA-A* 11:01-B*55:02 and HLA-A*02:07-B*40:01 may be associated with susceptibility to α-thalassemia of Han ethnic population in Wuzhou City.
