CAJ | 학술논문

目的：了解疑为地中海贫血人群β－地中海贫血基因突变类型。方法采用 PCR 体外扩增结合 DNA 芯片反向点杂交技术，检测3000例疑为地中海贫血者17种β－地中海贫血基因突变类型。结果3000例中β－地中海贫血基因突变携带率为26．27％（788／3000）。788例β－地中海贫血基因突变者中男455例占57．74％，女333例占42．26％；杂合子占86．93％（685／788），双重杂合子占9．01％（71／788），纯合子占4．06％（32／788）。 CD41－42（－TTCT）位点突变构成比最高，在685例杂合子中占50．36％（345／685），32例纯合子中占71．88％（23／32），71例双重杂合子中占52．11％（37／71）。788例β－地中海贫血基因突变携带者中共发现基因突变类型10个，部分患者有两种或两种以上突变。其中突变率最高的为 CD 41－42（－TTCT），占51．40％（405／788），其次为 IVS－Ⅱ－654（C→T）占17．26％（136／788）；－28（A→G）占13．96％（110／788）。结论疑为地中海贫血人群的β－地中海贫血基因突变携带率较高，建议将地中海贫血筛查列入常规体检、婚检和孕检，以降低重症地中海贫血患儿的出生率。
목적：료해의위지중해빈혈인군β－지중해빈혈기인돌변류형。방법채용 PCR 체외확증결합 DNA 심편반향점잡교기술，검측3000례의위지중해빈혈자17충β－지중해빈혈기인돌변류형。결과3000례중β－지중해빈혈기인돌변휴대솔위26．27％（788／3000）。788례β－지중해빈혈기인돌변자중남455례점57．74％，녀333례점42．26％；잡합자점86．93％（685／788），쌍중잡합자점9．01％（71／788），순합자점4．06％（32／788）。 CD41－42（－TTCT）위점돌변구성비최고，재685례잡합자중점50．36％（345／685），32례순합자중점71．88％（23／32），71례쌍중잡합자중점52．11％（37／71）。788례β－지중해빈혈기인돌변휴대자중공발현기인돌변류형10개，부분환자유량충혹량충이상돌변。기중돌변솔최고적위 CD 41－42（－TTCT），점51．40％（405／788），기차위 IVS－Ⅱ－654（C→T）점17．26％（136／788）；－28（A→G）점13．96％（110／788）。결론의위지중해빈혈인군적β－지중해빈혈기인돌변휴대솔교고，건의장지중해빈혈사사렬입상규체검、혼검화잉검，이강저중증지중해빈혈환인적출생솔。
Objective To determine the distribution of β-thalassemia gene mutations in suspected thalassemia population. Methods PCR amplification and DNA chip reverse dot blot assay were used to determine 17 β-thalassemia gene mutations in 3 000 suspected thalassemia patients.Results Of the 3 000 cases,788 who were identified as β-thalassemia gene mutation carriers(26.27%) included 455 male(57.74%) and 333 female(42.26%).Among the 788 cases,heterozygote,double heterozygote and homozygote cases accounted for 86.93%(685 /788),9.01%(71/788) and 4.06%(32 /788),respectively.CD41-42(-TTCT) site mutation achieved the highest proportion,which accounted for 50.36%(345 /685) in 685 heterozygote cases,71.88%(23 /32) in 32 homozygote cases and 52.11%(37/71) in 71 double heterozygote cases,respectively.There were 10 cases of gene mutations among 788 β-thalassemia gene mutation carriers,and some patients suffered from two or more mutations.CD41-42(-TTCT) owned the highest proportion of the mutation, which accounted for 51.40% (405/788),followed by IVS-II-654(C → T) and -28(A→G),accounting for 17.26%(136 /788) and 13.96%(110/788),respectively.Conclusion The proportion of β-thalassemia gene mutation carriers is high among suspected β-thalassemia population.Thalassemia screening should be recommended in routine physical examination,premarital test and pregnancy test to reduce the birth rate of children with thalassemia major.