中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
3期
296-299
,共4页
霍明瑞%于燕%刘海燕%郗斌%黄晓军%李丹
霍明瑞%于燕%劉海燕%郗斌%黃曉軍%李丹
곽명서%우연%류해연%치빈%황효군%리단
人类白细胞抗原%DRB1基因%骨髓增生异常综合征%再生障碍性贫血%遗传多态性
人類白細胞抗原%DRB1基因%骨髓增生異常綜閤徵%再生障礙性貧血%遺傳多態性
인류백세포항원%DRB1기인%골수증생이상종합정%재생장애성빈혈%유전다태성
HLA-DRB1 gene%myelodysplastic syndrome%aplastic anemia%genetic polymorphism
目的 探讨人类白细胞抗原(human leukocyte antigen,HLA)DRB1等位基因多态性与骨髓增生异常综合征(myelodysplastic syndrome,MDS)和再生障碍性贫血(aplastic anemia,AA)的关联性.方法 采用序列特异性引物聚合酶链反应(polymerase chain reaction-sequence specific primer,PCR-SSP)DNA分型技术对242例MDS和115例AA患者及2264名正常对照进行了HLA- DRB1基因分型.结果 MDS患者和AA患者的HLA-DRB1*15等位基因频率都明显高于正常对照组(22.93% vs.17.25%,χ2=9.662,OR=1.428,P=0.003;26.52% vs.17.25%,χ2=12.924,OR=1.732,P=0.001).另外MDS和AA的男性患者的DRB1*15都明显高于正常组(24.68% vs.17.25%,χ2=11.194,OR=1.572,P=0.001;29.29% vs.17.25%,χ2=13.563,OR=1.987,P=0.001),而女性患者差异并没有统计学意义.结论 MDS和AA的男性患者DRB1*15等位基因频率都明显高于正常人群,HLA-DRB1*15可能是男性MDS和AA患者的易感基因.
目的 探討人類白細胞抗原(human leukocyte antigen,HLA)DRB1等位基因多態性與骨髓增生異常綜閤徵(myelodysplastic syndrome,MDS)和再生障礙性貧血(aplastic anemia,AA)的關聯性.方法 採用序列特異性引物聚閤酶鏈反應(polymerase chain reaction-sequence specific primer,PCR-SSP)DNA分型技術對242例MDS和115例AA患者及2264名正常對照進行瞭HLA- DRB1基因分型.結果 MDS患者和AA患者的HLA-DRB1*15等位基因頻率都明顯高于正常對照組(22.93% vs.17.25%,χ2=9.662,OR=1.428,P=0.003;26.52% vs.17.25%,χ2=12.924,OR=1.732,P=0.001).另外MDS和AA的男性患者的DRB1*15都明顯高于正常組(24.68% vs.17.25%,χ2=11.194,OR=1.572,P=0.001;29.29% vs.17.25%,χ2=13.563,OR=1.987,P=0.001),而女性患者差異併沒有統計學意義.結論 MDS和AA的男性患者DRB1*15等位基因頻率都明顯高于正常人群,HLA-DRB1*15可能是男性MDS和AA患者的易感基因.
목적 탐토인류백세포항원(human leukocyte antigen,HLA)DRB1등위기인다태성여골수증생이상종합정(myelodysplastic syndrome,MDS)화재생장애성빈혈(aplastic anemia,AA)적관련성.방법 채용서렬특이성인물취합매련반응(polymerase chain reaction-sequence specific primer,PCR-SSP)DNA분형기술대242례MDS화115례AA환자급2264명정상대조진행료HLA- DRB1기인분형.결과 MDS환자화AA환자적HLA-DRB1*15등위기인빈솔도명현고우정상대조조(22.93% vs.17.25%,χ2=9.662,OR=1.428,P=0.003;26.52% vs.17.25%,χ2=12.924,OR=1.732,P=0.001).령외MDS화AA적남성환자적DRB1*15도명현고우정상조(24.68% vs.17.25%,χ2=11.194,OR=1.572,P=0.001;29.29% vs.17.25%,χ2=13.563,OR=1.987,P=0.001),이녀성환자차이병몰유통계학의의.결론 MDS화AA적남성환자DRB1*15등위기인빈솔도명현고우정상인군,HLA-DRB1*15가능시남성MDS화AA환자적역감기인.
Objective To investigate the association of the HLA-DRB1 polymorphism with susceptibility to myelodysplastic syndrome (MDS) and aplastic anemia (AA) in Chinese Han population.Methods The polymorphism of HLA-DRB1 alleles in 242 patients with MDS, 115 patients with AA and 2264 umbilical cord blood control samples were tested by polymerase chain reaction- sequence specific primer (PCR-SSP).Results Compared with normal controls, the frequency of HLA-DRB1*15 was significantly increased in the MDS group and AA group (22.93% vs. 17.25%, χ2=9.662, OR=1.428, P=0.003; 26.52% vs. 17.25%, χ2=12.924, OR=1.732, P=0.001). And this is mainly due to the increase in the male patients in both patient groups: in the MDS males, 24.68% vs. 17.25%, χ2=11.194, OR=1.572, P=0.001, and in the AA males, 29.29% vs. 17.25%, χ2=13.563, OR=1.987, P=0.001. No significant difference between the controls and the female patients in both groups was observed. Conclusion The HLA-DRB1*15 could be a susceptibility allele for MDS and AA male patients.
