IJLH：乙型肝炎病毒(HBG2)、乙型肝炎病毒(BCL11A)和血红蛋白(HMIP)多态性与伊拉克库尔德人镰状细胞病胎儿血红蛋白及临床表型的关系

2019-06-02 不详网络

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2号、6号和11号染色体上的三个主要数量性状位点(QTL)调控。三个qtl中有5个snp (HBG2, rs7482144;BCL11A, rs1427407, rs10189857；研究人员采用多重PCR和反向杂交技术对HBS1L‐MYB基因间区、rs28384513和rs9399137进行了研究，并评估了它

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2号、6号和11号染色体上的三个主要数量性状位点(QTL)调控。

三个qtl中有5个snp (HBG2, rs7482144;BCL11A, rs1427407, rs10189857；研究人员采用多重PCR和反向杂交技术对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SCD患者HbF和临床表型变异中的作用。

研究发现，小等位基因频率(MAF)为0.133的HBG2 rs7482144对HbF变异性的影响最大，为18.1%，其次为rs1427407 (MAF为0.266)和rs9399137 (MAF为0.137)，分别为14.3%和8.8%。另外两个snp的贡献并不显著。此外,当累计的数量小的三个贡献snp等位基因进行了评估,住宅%和血红蛋白浓度增加,越来越多的小等位基因(P <分别为0.0005和0.001),而血清乳酸脱氢酶、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)。

研究表明，所有三种主要HbF QTLs中的snp都对患有SCD的伊拉克库尔德人的HbF和临床变异性有显著的影响，而在这些人群中，贡献snp的小等位基因的累积数量可以作为这种变异性的更好的预测因子。

原始出处：

Nasir Al‐Allawi, Shatha M. A. Qadir,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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2019-11-11 okhuali

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2019-12-19 windight

#胎儿血红蛋白#

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2019-06-04 zhaojie88

#乙型肝炎病毒#

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2019-06-04 hukaixun

#临床表型#

42 0
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2019-06-04 tastas

#表型#

31 0
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2019-06-04 1508842480_96220443

#镰状细胞#

39 0
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2019-06-04 xzw120

#多态性#

33 0

内科

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感染

IJLH：乙型肝炎病毒(HBG2)、乙型肝炎病毒(BCL11A)和血红蛋白(HMIP)多态性与伊拉克库尔德人镰状细胞病胎儿血红蛋白及临床表型的关系

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