INT J LAB HEMATOL：HBG2、BCL11A、HMIP多态性与胎儿血红蛋白及镰状细胞病临床表型的关系

2019-01-26 MedSci MedSci原创

胎儿血红蛋白(HbF)是镰状细胞病(SCD)严重程度的主要调节因子。HbF主要由染色体2、6、11上的三个主要数量性状位点(QTL)调控。研究人员对3个QTLs (HBG2, rs7482144;BCL11A、rs1427407、rs10189857采用多重PCR和反向杂交的方法对HBS1L MYB基因间区、rs28384513和rs9399137)进行了研究，并评估了它们在伊拉克库尔德人SCD

胎儿血红蛋白(HbF)是镰状细胞病(SCD)严重程度的主要调节因子。HbF主要由染色体2、6、11上的三个主要数量性状位点(QTL)调控。研究人员对3个QTLs (HBG2, rs7482144;BCL11A、rs1427407、rs10189857采用多重PCR和反向杂交的方法对HBS1L MYB基因间区、rs28384513和rs9399137)进行了研究，并评估了它们在伊拉克库尔德人SCD患者HbF和临床表型变异性中的作用。

结果表明，HBG2 rs7482144小等位基因频率(MAF)为0.133对HbF变异的贡献最大，为18.1%，其次是rs1427407 (MAF为0.266)和rs9399137 (MAF为0.137)，分别为14.3%和8.8%。另外两个snp不是重要的贡献者。此外,当累计的数量小的三个贡献snp等位基因进行了评估， HbF%和血红蛋白浓度随着越来越多的小等位基因(P <分别为0.0005和0.001)增加，而随血清乳酸脱氢酶、网织红细胞,白细胞,输血,和疼痛频率降低(P = 0.003、0.004 < 0.0005,< 0.0005和0.017)降低。

研究表明，三种主要HbF QTLs中的SNPs对SCD的伊拉克库尔德人的HbF和临床变异性均有显著影响，且SNPs的小等位基因累积数量可能是该人群中此类变异性的较好的预测因子。

原始出处：

Nasir Al‐Allawi Shatha M. A. Qadir Helene Puehringer, The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease

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2019-12-04 windight

#胎儿血红蛋白#

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2019-01-28 fengyi812

#EMA#

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2019-01-28 hukaixun

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2019-01-28 tastas

#表型#

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2019-01-28 1508842480_96220443

#镰状细胞#

26 0
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2019-01-28 xzw120

#多态性#

38 0

内科

外科

专科科室

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临床工具

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科研数智化

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数字化学术传播解决方案

其它

血液科

INT J LAB HEMATOL：HBG2、BCL11A、HMIP多态性与胎儿血红蛋白及镰状细胞病临床表型的关系

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