论文部分内容阅读
目的:了解广西β地中海贫血(以下简称β地贫)基因型别特点,以通过产前诊断等措施有效杜绝重型地贫患儿出生。方法:应用聚合酶链反应(PCR)体外扩增联合DNA芯片反向点杂交技术检测对妊娠前和妊娠期经优生遗传科地贫初筛拟为轻型β地贫的夫妇双方883例血样标本进行基因分析。对夫妇双方同患β地贫的女方怀孕时取羊水或脐血对胎儿进行地贫基因分析(产前诊断)。结果:①883例轻型β地贫中检出7种突变类型,其中CD 41-42(-CTTT)占46.66%,CD 17(A-T)占24.24%,这两种基因型别占该7种类型的70.9%。②883例β地贫中检出复合α地贫23例,占2.60%。③883例中检出夫妇双方同患β地贫46对(92例),对46例孕妇的羊水或脐血进行产前诊断,共检出17例重型地贫的胎儿,基因型别以CD 41-42纯合子多见,其次是CD 41-42/CD 17双重杂合子和CD 41-42/IV S-2-654双重杂合子。结论:CD 41-42(-CTTT)是广西最常见的β地贫基因突变类型,产前诊断可有效杜绝17例重型地贫患儿出生。
Objective: To understand the characteristics of Guangxi β thalassemia (hereinafter referred to as β thalassemia) genotypes, to prevent the birth of children with severe thalassemia by prenatal diagnosis and other measures. Methods: The polymerase chain reaction (PCR) in vitro amplification combined with DNA chip reverse dot blot was used to detect 883 blood samples from both pre-pregnancy and pre-pregnancy couples Genetic analysis. Pregnant women with both β-thalassemia and both women taking amniotic fluid or umbilical cord blood on the fetal thalassemia genetic analysis (prenatal diagnosis). Results: ①There were 7 types of mutations in 883 patients with mild β-thalassemia, with CD 41-42 (-CTTT) accounting for 46.66% and CD 17 (AT) accounting for 24.24%. These two genotypes accounted for 7 types 70.9%. ② 883 cases of β-thalassemia were detected in 23 cases of composite α-thalassemia, accounting for 2.60%. ③ In 883 cases, 46 pairs of β-thalassemia patients (92 cases) were detected in both couples and prenatal diagnosis of amniotic fluid or umbilical cord blood in 46 pregnant women. A total of 17 fetuses with severe thalassemia were detected. The genotypes were CD41 -42 homozygotes were more common, followed by CD 41-42 / CD 17 dual heterozygotes and CD 41-42 / IV S-2-654 double heterozygotes. Conclusion: CD 41-42 (-CTTT) is the most common type of β thalassemia mutation in Guangxi. Prenatal diagnosis can effectively prevent the birth of 17 cases of severe thalassemia.