中国基层医药
中國基層醫藥
중국기층의약
CHINESE JOURNAL OF PRIMARY MEDICINE AND PHARMACY
2013年
7期
964-966
,共3页
姚倩瑜%李铭臻%邱建国%莫清萍%钟鸣
姚倩瑜%李銘臻%邱建國%莫清萍%鐘鳴
요천유%리명진%구건국%막청평%종명
地中海贫血%遗传筛查%产前诊断
地中海貧血%遺傳篩查%產前診斷
지중해빈혈%유전사사%산전진단
Thalassemia%Genetic screening%Prenatal diagnosis
目的 减少东莞地区中重症α和β地中海贫血儿的出生率,提高出生人口素质.方法 采用红细胞平均体积测定对2 218例育龄夫妇进行地中海贫血的筛查,并用跨越断裂点聚合酶链反应(Gap-PCR)技术及随机双盲试验(RDB)法分别对α及β地中海贫血进行基因诊断.结果 检出地中海贫血277例,发生率12.49％.α地中海贫血220例,基因携带率为9.92％;其中:--SEA/αα198例,-α3.7/αα11例,-α4.2/αα7例.检出β地中海贫血57例,基因携带率为2.57％.检出β基因突变类型依次为CD41/42(-TTCT) 27例,IVS2nt-654(C→T)14例,CD17(A→T)10例,-28(A→G)4例,TATAbox29(A→G)1例,CD71/72(+A)1例.对42对夫妇均为地中海贫血携带者的胎儿进行产前诊断,3例为Bart水肿胎终止妊娠,7例为β地中海贫血纯合子而终止妊娠.结论 通过产前筛查地中海贫血及基因诊断,可确诊重症患儿并及时终止妊娠.建立切实可行的人群筛查-高风险夫妇产前诊断-选择性流产体系,可有效避免重症患儿的出生,对提高人口素质具有重要意义.
目的 減少東莞地區中重癥α和β地中海貧血兒的齣生率,提高齣生人口素質.方法 採用紅細胞平均體積測定對2 218例育齡伕婦進行地中海貧血的篩查,併用跨越斷裂點聚閤酶鏈反應(Gap-PCR)技術及隨機雙盲試驗(RDB)法分彆對α及β地中海貧血進行基因診斷.結果 檢齣地中海貧血277例,髮生率12.49％.α地中海貧血220例,基因攜帶率為9.92％;其中:--SEA/αα198例,-α3.7/αα11例,-α4.2/αα7例.檢齣β地中海貧血57例,基因攜帶率為2.57％.檢齣β基因突變類型依次為CD41/42(-TTCT) 27例,IVS2nt-654(C→T)14例,CD17(A→T)10例,-28(A→G)4例,TATAbox29(A→G)1例,CD71/72(+A)1例.對42對伕婦均為地中海貧血攜帶者的胎兒進行產前診斷,3例為Bart水腫胎終止妊娠,7例為β地中海貧血純閤子而終止妊娠.結論 通過產前篩查地中海貧血及基因診斷,可確診重癥患兒併及時終止妊娠.建立切實可行的人群篩查-高風險伕婦產前診斷-選擇性流產體繫,可有效避免重癥患兒的齣生,對提高人口素質具有重要意義.
목적 감소동완지구중중증α화β지중해빈혈인적출생솔,제고출생인구소질.방법 채용홍세포평균체적측정대2 218례육령부부진행지중해빈혈적사사,병용과월단렬점취합매련반응(Gap-PCR)기술급수궤쌍맹시험(RDB)법분별대α급β지중해빈혈진행기인진단.결과 검출지중해빈혈277례,발생솔12.49％.α지중해빈혈220례,기인휴대솔위9.92％;기중:--SEA/αα198례,-α3.7/αα11례,-α4.2/αα7례.검출β지중해빈혈57례,기인휴대솔위2.57％.검출β기인돌변류형의차위CD41/42(-TTCT) 27례,IVS2nt-654(C→T)14례,CD17(A→T)10례,-28(A→G)4례,TATAbox29(A→G)1례,CD71/72(+A)1례.대42대부부균위지중해빈혈휴대자적태인진행산전진단,3례위Bart수종태종지임신,7례위β지중해빈혈순합자이종지임신.결론 통과산전사사지중해빈혈급기인진단,가학진중증환인병급시종지임신.건립절실가행적인군사사-고풍험부부산전진단-선택성유산체계,가유효피면중증환인적출생,대제고인구소질구유중요의의.
Objective To reduce birthrate of severe thalassemia children of this area and improve population diathesis.Methods The red blood cell indices analysis was carried out on all of the samples of 2 218 couples.GapPCR and RDB method were used for α-thalassemia genotyping and β-thalassemia genotyping.Results 277 cases of thalassemia (12.49％) were identified among the total cases.220 cases were with α-thalassemia(9.92％),which including 198 cases of--SEA/αα,11 cases of-α37/,7 cases of-α4.2/αα,57 cases were with β-thalassemia(2.57％),the types of mutation were CD41/42 (-TTCT),IVS2nt-654 (C→T),CD17 (A→T),-28 (A→G),TATAbox29 (A→G),CD71/72(+ A).42 carrier couples were detected for thalassemia and the fetuses were subjected prenatal diagnosis:3cases of Bart's edema,7 cases of β-thalassemia homozygote.Conclusions Neonates with major thalassemia can be clarified and even avoided by screening the incidence and types of genicmutations.Thus setting up the system of prenatal screening-prenatal diagnosis-selective abortion is effective to avoid the birth of neonates.And it is vital to improve the quality of human being.
