CAJ | 학술논문

目的了解广州市育龄人群中地中海贫血基因突变类型和频率,为优生优育提供参考和指导.方法采用血液学初步筛查地中海贫血高危人群,高效液相色谱法(High Performance Liquid Chromatography,HPLC)鉴别地贫亚型,GAP-PCR和反向斑点杂交技术(Reverse dot blot,RDB)诊断α、β地贫基因.结果 1249例初筛阳性受检者确诊为地贫1031例,其中α地贫700例,阳性率为7.80％；β地贫288例,阳性率为3.21％；α复合β地贫43例,阳性率为0.48％.结论广州市地中海贫血发生率较高,以--SEA和CD41-42基因型最常见,其α、β地贫基因型分布符合广东省的基本特点,对育龄人群进行地贫筛查和基因诊断对提高当地人口素质有重要意义.
목적 료해엄주시육령인군중지중해빈혈기인돌변류형화빈솔,위우생우육제공삼고화지도.방법 채용혈액학초보사사지중해빈혈고위인군,고효액상색보법(High Performance Liquid Chromatography,HPLC)감별지빈아형,GAP-PCR화반향반점잡교기술(Reverse dot blot,RDB)진단α、β지빈기인.결과 1249례초사양성수검자학진위지빈1031례,기중α지빈700례,양성솔위7.80％；β지빈288례,양성솔위3.21％；α복합β지빈43례,양성솔위0.48％.결론 엄주시지중해빈혈발생솔교고,이--SEA화CD41-42기인형최상견,기α、β지빈기인형분포부합광동성적기본특점,대육령인군진행지빈사사화기인진단대제고당지인구소질유중요의의.
Objective To understand the gene mutation patterns and frequencies of thalassemia for improving birth outcome and child development.Methods Blood examination screened high risk population of thalassemia.Hemoglobin subtypes were detected by HPLC.α-thalassemia and β-thalassemia were tested by GAPPCR and reverse dot blot.Results 1031 cases of 1249 positive samples were diagnosed as thalassemia,including 700 cases (7.80％) of α-thalassemia,288 cases(3.21％) of β-thalassemia and 43 cases of mixed thalassemia.Conclusions Guangzhou is a region of high-prevalance of thalassemia.--SEAand CD41-42 are the most common thalassemia genotypes in Guangzhou city.The characteristics of α-,β-thalassemia genotype in Guangzhou are consistent with that in Guangdong province.It has significant value by screening the carriers of thalassemia in the public and giving them genetic diagnosis.