中华流行病学杂志
中華流行病學雜誌
중화류행병학잡지
CHINESE JOURNAL OF EPIDEMIOLOGY
2009年
2期
156-158
,共3页
地中海贫血%育龄人群%现况调查
地中海貧血%育齡人群%現況調查
지중해빈혈%육령인군%현황조사
Thalassemia%People ofreproductive age%Cross-sectional study
目的 调查桂林市城镇育龄人群地中海贫血(地贫)的现况.方法 用红细胞平均容积(MCV)和血红蛋白电泳法对所有调查对象进行地贫筛查,对筛查出疑为α地贫或β地贫标本进一步采用PCR结合反向点杂交法(ROB)进行基因检测,以检出地贫基因来确诊.结果 在1580例受检者中,确定α地贫基因型的有79例,检出率为5.00%,α贫在男女性中检出率分别为5.32%、4.68%,差异无统计学意义(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05);确定β地贫基因型的有114例,检出率为7.22%,β地贫在男女性中检出率分别为7.85%、6.58%,差异无统计学意义(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05);总的地贫检出率为12.22%(193/1580).α地贫共检出10种基因型,以轻型--SEA/αα为主,检出率为3.54%;静止型以-α3.7/αα居多,轻型以--SEA/αα居多,中间型以--SEA/-αCS居多;其构成比分别为7.59%、70.88%、2.53%;B地贫共检出7种基因型,以CD41-42(-TTCT)居多,检出率为3.16%,其中最常见的3种基因型CD41-42(-TTCT)、CDl7(A→T)和IVS-Ⅱ-654(C→T),构成占突变基因的87.71%;β、α复合型地贫检出率为0.63%.结论 桂林市城镇育龄人群地贫检出率较高.
目的 調查桂林市城鎮育齡人群地中海貧血(地貧)的現況.方法 用紅細胞平均容積(MCV)和血紅蛋白電泳法對所有調查對象進行地貧篩查,對篩查齣疑為α地貧或β地貧標本進一步採用PCR結閤反嚮點雜交法(ROB)進行基因檢測,以檢齣地貧基因來確診.結果 在1580例受檢者中,確定α地貧基因型的有79例,檢齣率為5.00%,α貧在男女性中檢齣率分彆為5.32%、4.68%,差異無統計學意義(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05);確定β地貧基因型的有114例,檢齣率為7.22%,β地貧在男女性中檢齣率分彆為7.85%、6.58%,差異無統計學意義(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05);總的地貧檢齣率為12.22%(193/1580).α地貧共檢齣10種基因型,以輕型--SEA/αα為主,檢齣率為3.54%;靜止型以-α3.7/αα居多,輕型以--SEA/αα居多,中間型以--SEA/-αCS居多;其構成比分彆為7.59%、70.88%、2.53%;B地貧共檢齣7種基因型,以CD41-42(-TTCT)居多,檢齣率為3.16%,其中最常見的3種基因型CD41-42(-TTCT)、CDl7(A→T)和IVS-Ⅱ-654(C→T),構成佔突變基因的87.71%;β、α複閤型地貧檢齣率為0.63%.結論 桂林市城鎮育齡人群地貧檢齣率較高.
목적 조사계림시성진육령인군지중해빈혈(지빈)적현황.방법 용홍세포평균용적(MCV)화혈홍단백전영법대소유조사대상진행지빈사사,대사사출의위α지빈혹β지빈표본진일보채용PCR결합반향점잡교법(ROB)진행기인검측,이검출지빈기인래학진.결과 재1580례수검자중,학정α지빈기인형적유79례,검출솔위5.00%,α빈재남녀성중검출솔분별위5.32%、4.68%,차이무통계학의의(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05);학정β지빈기인형적유114례,검출솔위7.22%,β지빈재남녀성중검출솔분별위7.85%、6.58%,차이무통계학의의(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05);총적지빈검출솔위12.22%(193/1580).α지빈공검출10충기인형,이경형--SEA/αα위주,검출솔위3.54%;정지형이-α3.7/αα거다,경형이--SEA/αα거다,중간형이--SEA/-αCS거다;기구성비분별위7.59%、70.88%、2.53%;B지빈공검출7충기인형,이CD41-42(-TTCT)거다,검출솔위3.16%,기중최상견적3충기인형CD41-42(-TTCT)、CDl7(A→T)화IVS-Ⅱ-654(C→T),구성점돌변기인적87.71%;β、α복합형지빈검출솔위0.63%.결론 계림시성진육령인군지빈검출솔교고.
Objective To study the present situation of thalassemia among people at reproductive age in Guilin city.Methods A complete red blood eell mean cell volume(RBCMCV)was detected as well as hemoglobin electrophoresis analysis were done for all samples.Suspected αorβ thalassemia cases,wcTe screened out and a and β thalassemia genes were detected by PCR-RDB.Results Among 1580 cases,79 Cases were detected α thalassemia gene positive.with the detection rateas 5.00%.The detection rates on α thalassemia were 5.32%.4.68%in males and females,but no significant difference(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05).114 cases were detected carrying β thalassemia gene with the detection rate as 7.22%.The detection rates on β thalassemia were 7.85%,6.58%in males and females,with no significant difference(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05).The overall detection rate of thalassemia was 12.22%(193/1580).α halassemia were found to have had ten genotypes.with-α3.7/αα the most common one and the detection rate was 3.54%.--SEA/αα appeared the majority in the static α thalassemia and --SEA/αα took the majority in the light α thalassemia,while--SEA/-αCS was the major one in the intermedia α thalassemia,with gene conwibutions of 7.59%,70.88%and 2.53%.β halassemia was detected having seven genotypes,with CD41-42(-TTCT)the most commoll one in B thalassemia,and the detection rate was 3.1 6%.11he commonly seen three mutations,CD41-42(-TTCT),CDl7(A→T)and IVS-Ⅱ-654(C→T)were accounted for 87.71%of β thalassemia.The detection rate on thalassemia α and β combination was 0.63%.Conclusion The detection rate of thalassemia among people at productive age in Guilin city was relatively high.
