| 引用本文: | | 蔡 敏,陈 佩,罗 静,邹智伦.[cn_title][J].[journal_cn_name],2023,[volume]([issue]):1017-1021.[点击复制] |
| | CAI Min,CHEN Pei,LUO Jing,ZOU Zhilun.[en_title][J].[journal_en_name],2023,[volume]([issue]):1017-1021.[点击复制] |
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| 摘要: |
| 目的：分析浏阳地区9 325例地中海贫血基因检测的阳性率和基因分布情况，为本地区地中海贫血防治工作提供依据。方法：选取2013年7月31日至2022年12月31日在浏阳市妇幼保健院进行地中海贫血基因检测的9 325例样本为研究对象，采用液相芯片的方法分析17种β点突变、3种α点突变和3种α缺失，采用多重PCR技术和第一代高通量测序的方法，进一步送检罕见地中海贫血基因突变。结果：（1）9 325例地贫基因检测中阳性结果为3 750例，阳性率为40.21%，其中检出24种α地中海贫血、20种β地中海贫血，27种α复合β地中海贫血。（2）α地贫阳性例数为2 105例，占检测总数比率为22.57%，占地贫阳性率为56.13%；β地贫阳性例数为1 535例，占检测总数比率为16.46%，占地贫阳性率为40.93%；α复合β地贫阳性例数为110例，占检测总数比率为1.18%，占地贫阳性率为2.94%。（3）α地贫位于前三类基因型别分别为--SEA（73.62%）、-α3.7（14.48%）、-α4.2（4.50%），β地贫位于前三类基因型别分别为βIVS-2-654（40.39%）、CD41/42（26.31%）、CD17（10.35%）。α复合β地贫位于前三类基因型别分别为--SEA/ VIS-Ⅱ-654（16.36%）、-α3.7/ CD41/42（13.64%）、--SEA /CD41/42（11.81%）。结论：浏阳市地中海贫血检出率较高，地贫类型多样，应加强地贫防控以防止重型患儿出生。 |
| 关键词: 地中海贫血 基因类型 浏阳 重型地中海贫血 |
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| Analysis Results of 9，325 Samples about Thalassemia Gene Types in Liu Yang Area |
| CAI Min,CHEN Pei,LUO Jing,ZOU Zhilun |
| (The Department of Genetics and Eugenics，Liu Yang Maternal and Child Health Hospital) |
| Abstract: |
| Objective：To investigate the positive rate and distribution characteristics of thalassemia gene，9，325 samples about Thalassemia gene types in Liu Yang area was screened.To provide a basis for the prevention and treatment of thalassemia in this region.Methods：Data analysis was made on 9，325 cases of thalassemia gene screening patients in the Maternal and child Health Hospital of Liu Yan from July 31th，2013 toDecember 31th，2022 in order to analyse the thalassemia genotypes.The liquid chip was used to detect 17 kinds β thalassemia gene mutations and 3 kinds α thalassemia gene mutations and 3 kinds αthalassemia gene deletion，the other fluorescence quantitative PCR and the first -generation DNA sequencing to detect rare thalassemia mutations and deletion. ResuIts：（1）Among 9，325 cases of thalassemia gene screening，3，750 were positive for thalassemia gene，24 kinds of α 、20 kinds of β、27 kinds of α compound β were detected，which of the total positive rate was 40.21%.（2）2，105 cases were positive of α thalassemia gene，accounting for 22.57% of the total samples and 56.13% of the total positive samples；1，535 cases were positive samples of β thalassemia gene，accounting for 16.46% of the total samples and 40.93% of the total positive samples；110 cases were α compound β thalassemia gene positive samples，accounting for 1.18% of the total samples and 2.94% of the total positive samples.（3）The most genotypes of α thalassemia was --SEA（73.62%）、-α3.7（14.48%）、-α4.2（4.50%）in proper order，IVS II 654（40.39%）、CD41/42（26.31%）、CD17（10.35%）was the main third positive samples of β thalassemia gene.The most genotypes of α compound β thalassemia was --SEA/ VIS-Ⅱ-654（16.36%）、-α3.7/ CD41/42（13.64%）、--SEA /CD41/42（11.81%）. ConcIusion：The incidence rate of thalassemia in Liu Yang is high，the genotypes were multifarious. We should enforce prevention and control of thalassemia in order to prevent being born in thalassemia major. |
| Key words: Thalassemia Gene Type Liu yang Thalassemia Major |
