渝东北开州地区地中海贫血基因型调查统计分析

Statistical analysis of thalassemia genotypese in kaizhou area northeast of chongqing

目的了解渝东北开州地区地中海贫血基因型的分布情况。方法利用GAP-PCR方法和PCR结合反向斑点杂交法检测分析地中海贫血基因分型,回顾性分析2015年-2017年重庆市开州区人民医院427例地中海贫血基因型阳性结果。结果3534例标本中检出地中海贫血阳性患者427例,检出率为12.1%,其中α地中海贫血182例,β地中海贫血234例。α地中海贫血以--SEA/αα缺失基因型为主(55.5%),其次是-α3.7/αα缺失基因型(37.4%),-α4.2/αα缺失基因型(7.1%)。β地中海贫血以CD17位点突变为主(42.3%),其次是IVS-II-654(26.1%),CD41-42(20.5%),CD71-72(3.0%)。其中IVS-II-654位点突变基因型较其他已报道地区所占比例明显偏高。结论重庆渝东北开州地区地中海贫血基因分布规律同整个重庆地区以及其他各省的主要基因型分布规律大体一致,但也存在着一定的地域特点,β地中海贫血IVS-II-654突变基因型较其他地区的占比明显偏高。同时,整个渝东北地区的地中海贫血阳性检出率在青壮年组偏高,应加强育龄青年群体对该疾病的筛查及指导工作,做好宣传普及教育工作,减少地贫患儿尤其是重症地贫患儿的出生。

Objective To understand the distribution of thalassemiagenotypes in kaizhou area,northeast chongqin.Methods Genotypes of thalassemia were analyzed by GAP-PCR method and PCR combined with reverse dot hybridization.427 cases with positive thalassemia genotypes in our hospital from 2015 to 2017 were retrospectively analyzed.Results Among the 3534 samples,427 patients with positive thalassemia were detected,with the detection rate of 12.1%,including 182 cases ofα-thalassemia and 234 cases ofβ-thalassemia.α-thalassemia is given priority to with--SEA/ααmissing genotype(55.5%),followed by-α3.7/ααmissing genotype(37.4%),and-α4.2/ααmissing genotype(7.1%).β-thalassemia was dominated by CD17 mutation(42.3%),followed by IVS-II-654(26.1%),CD41-42(20.5%),and CD71-72(3.0%).The percentage of IVS-II-654 mutation genotype was significantly higher than that in other reported regions.Conclusion The distribution rules of thalassemia gene in kaizhou area northeast of chongqing are generally consistent with the distribution rules of major genotypes in chongqing area and other provinces,but there are some regional characteristics.At the same time,the positive detection rate of thalassaemia in the northeast of chongqing is higher in the young and middle-aged group,so it is necessary to strengthen the screening and guidance work of the young people of childbearing age for this disease,do a good job in publicity and education,and reduce the birth of children with poor,especially children with severe poor.