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目的了解中山市新生儿α、β地中海贫血基因型的分布情况。方法对2 987例新生儿血样采用单管多重聚合酶链反应法结合反向斑点膜条杂交技术同时进行α、β-地中海贫血基因检测。结果经基因分析,共检出α、β-地中海贫血312例,比例为10.45%。α-地中海贫血226例,以--SEA/αα基因型最为常见,占48.67%;非缺失型18例,占7.96%;确定为β-地中海贫血共94例,α、β复合型地中海贫血8例。β-地中海贫血中共计发现8种基因型,其中以CD41-42位点突变所占比例最高;2 987例样本中男性1 601例,其中地中海贫血166例(10.37%),女性1 386例,其中地中海贫血146例(10.53%),男性和女性地中海贫血检测阳性率差异无统计学意义(P>0.05)。结论中山地区新生儿地中海贫血基因携带率高,遗传背景多样复杂,所以在新生儿期开展地中海贫血防控工作具有重要意义。
Objective To understand the distribution of α, β thalassemia genotypes in neonates in Zhongshan City. Methods The blood samples of 2 987 newborns were tested for α, β-thalassemia gene simultaneously by single-tube multiplex polymerase chain reaction and reverse dot blot hybridization. Results After genetic analysis, 312 cases of α, β-thalassemia were detected, the proportion was 10.45%. α-thalassemia 226 cases, --SEA / αα genotype is the most common, accounting for 48.67%; non-deletion type in 18 cases, accounting for 7.96%; 94 cases were determined β-thalassemia, α, β-thalassemia 8 example. β-thalassemia total found eight genotypes, of which the CD41-42 site mutations accounted for the highest; 2 987 samples of male 1 601 cases, of which 166 cases (10.37%) of thalassemia, 1 386 women, There were 146 cases (10.53%) of thalassemia in thalassemia. The positive rate of thalassemia was no significant difference between males and females (P> 0.05). Conclusion The prevalence of thalassemia gene in newborns in Zhongshan area is high and the genetic background is diverse and complicated. Therefore, it is of great significance to carry out thalassemia prevention and control in neonatal period.