江西省部分地区1630例地中海贫血基因突变类型分布研究

Research on gene mutation type distribution of 1630 thalassemia cases in part regions of Jiangxi province

目的了解江西省部分地区(包括赣州、南昌、宜春、吉安、萍乡)α、β-地中海贫血基因突变类型的分布,为该省地中海贫血防控提供参考依据。方法收集2015年5月至2016年12月送江西金域医学检验所检测的3178例疑为地中海贫血患者的血液标本,采用跨跃断裂点PCR(gap-PCR)和PCR-膜反向点杂交(reversedot blot,RDB)技术对其进行地贫基因检测。结果在3178例标本中,共检出地贫携带者1630例,其中包括α-地贫携带者915例,占56.13%,β-地贫携带者657例,占40.31%,α-地贫复合β-地贫携带者58例,占3.56%。α-地贫以αα/--SEA基因型突变为主,β-地贫以IVS-II-654、CD41-42杂合子基因型突变为主,α-地贫复合β-地贫以--SEA/β-地贫基因型突变为主。成年组阳性检出率与婴儿组、儿童组相比,差异无统计学意义(χ^2=0.021、0.181,P>0.05)。结论江西省部分地区地贫基因突变携带率相对较高,需引起高度重视,加强婚前筛查及产前诊断工作,为预防患儿的出生提供有效的指导。

Objective To investigate the distribution of gene mutation types of α、β-thalassemia in part regions of Jiangxi province (including Ganzhou, Nanchang, Yichun, Ji′an and Pingxiang), so as to provide reference basis for thalassemia prevention. Methods Blood samples from 3178 patients were collected. Gap-PCR and RDB-PCR method were used to detect the gene mutation of thalassemia samples. Results In 3178 specimen, 1630 were detected as thalassemia carrier, including 915 were detected as α-thalassemia, accounting for 56.13%, 657 were detected as β-thalassemia, accounting for 40.31%, and 58 were α-thalassemia combined with β-thalassemia, accounting for 3.56%. The αα/--SEA mutation was the dominant type in α-thalassemia, the IVS-Ⅱ-654、CD41-42 heterozygous mutation were the dominant type in β-thalassemia, the --SEA/β-thalassemia mutation were the dominant type in α-thalassemia combined with β-thalassemia. There was no significant difference of thalassemia positive rate (χ^2=0.021, 0.181, P>0.05) between the adult group and the infant group, the children group. Conclusions The carrying rate of gene mutation in thalassemia was relatively high in some areas of Jiangxi Province, great attention should be paid to this phenomenon. Premarital screening and prenatal diagnosis should be strengthened to provide effective guidance for the prevention of the birth of children with thalassemia.