| 贵州黔南州育龄人群地中海贫血基因检测结果分析 |
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| 引用本文： | 杨先艳,邱永红,班文芬,熊伟,魏萍,杨远菊,谢丽,刘亚.贵州黔南州育龄人群地中海贫血基因检测结果分析[J].现代预防医学,2020,0(21):3963-3967. |
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| 作者姓名： | 杨先艳 邱永红 班文芬 熊伟 魏萍 杨远菊 谢丽 刘亚 |
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| 作者单位： | 1.贵州省黔南州中医医院产科，贵州 都匀 558000；2.黔南州妇幼保健院，贵州 都匀 558000；3.贵州省长顺县妇幼保健院，贵州 长顺 550700；4.贵州省三都县妇幼保健院，贵州 三都 558100；5.贵州省惠水县妇幼保健院，贵州 惠水 550600；6.贵州省平塘县妇幼保健院，贵州 平塘 558300 |
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| 摘 要： | 目的 分析黔南州育龄人群地中海贫血（简称地贫）基因携带状况，以便为地贫筛查规划提供参考依据。 方法 对2015-2019年黔南州23 987名育龄人群采用红细胞指标检测(MCV和MCH)和血红蛋白电泳(HbA2) 分析进行地贫筛查，初筛阳性者行基因检测确诊，运用统计学方法分析育龄人群基因检出情况。 结果 23 987名育龄人群中，地贫基因阳性1 037例，检出率4.32%（1 037/23 987）。其中男性地贫基因检出率3.80%（376/9 893），女性为4.69%（661/14 094）。女性检出率高于男性（x2=11.114， P =0.015)；汉族、布依族、苗族、水族、壮族、侗族、毛南族、土家族、瑶族、仡佬族、彝族、回族、其他民族地贫基因检出率分别为1.66%、5.95%、5.18%、7.24%、5.12%、2.95%、6.88%、2.43%、5.14%、1.34%、1.89%、2.81%、2.56%；黔南州地贫基因检出率排前三位分别是长顺县（4.69%）、惠水县（4.61%）和三都县（4.51%），基因型主要以--SEA/αα、βCD41-42/βN、βCD17/βN为主，占60.95%。 结论 黔南州育龄人群地中海贫血基因携带率较高，具有性别、民族和县份分布特点。
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| 关 键 词： | 地中海贫血 基因诊断 育龄人群 少数民族 |
Detection of Thalassemia genesin productive populationin Qiannan,Guizhou |
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| YANG Xian-yan,QIU Yong-hong,BAN Wen-fen,XIONG Wei,WEI Ping,YANG Yuan-ju,XIE Li,LIU Ya.Detection of Thalassemia genesin productive populationin Qiannan,Guizhou[J].Modern Preventive Medicine,2020,0(21):3963-3967. |
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| Authors: | YANG Xian-yan QIU Yong-hong BAN Wen-fen XIONG Wei WEI Ping YANG Yuan-ju XIE Li LIU Ya |
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| Affiliation: | *Department of Maternity, The Hosptial of Traditional Chinese Medicine of Qiannan, Duyun, Guizhou 558000, China |
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| Abstract: | Abstract: Objective To investigate the carrying status of thalassemia genes in productive population，and to provide reference for the screening program of thalassemia in Qiannan. Methods From 2015 to 2019，23 987 people of childbearing age in Qiannan Prefecture were screened for thalassemia with the red blood cell index detection ( MCV and MCH) and the hemoglobin electrophoresis ( HbA2) analysis. Primary screening positive productive population were diagnosed with the thalassemia genedetection，and the detection results were analyzed statistically. Results Among 23 987 productive population accepting thalassemia gene detection，1 037 were positive for thalassemia relatedgenes，with an overall detection rate of 4. 32% ( 1 037 /23 987) . The detection rates were 3. 80% for male ( 376 /9 893 ) and 4. 69% for female ( 661 /14 094 ) . There was a significant difference in prevalence of male and female ( χ2 = 11. 114，P = 0. 015) . The detection rates of different populations were Han ( 1. 66% ) ，Buyi ( 5. 95% ) ，Miao ( 5. 18% ) ，Shui ( 7. 24% ) ，Zhuang ( 5. 12% ) ，Tong ( 2. 95% ) ，Maonan( 6. 88% ) ，Tujia ( 2. 95% ) ，Yao ( 5. 14% ) ，Gelao ( 1. 34% ) ，Yi ( 1. 89% ) ，Hui ( 2. 81% ) and other ( 2. 56% ) . The top three detection rates of thalassemia gene were Changshun county ( 4. 69% ) ，Huishui county ( 4. 61% ) and Sandu county( 4. 51% ) . The main types of gene were SEA /αα，βCD41 － 42 /βN and βCD17 /βN，accounting for 60. 95% . Conclusion The carrying rate of common genes associated with thalassemia is relatively high in productive population in Qianna Nand differs bygender，nationality and county. |
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| Keywords: | Thalassemia Genetic diagnosis Productive population Ethnic minorities |
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