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一个HPFH复合β地中海贫血家系的^Aγ珠蛋白基因分析 被引量:1

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摘要 一个HPFH复合β地中海贫血家系的Aγ珠蛋白基因分析孙琼陈美珏任兆瑞曾溢滔我们已报道过一个β地中海贫血(β地贫)复合遗传性持续性胎儿血红蛋白症(HPFH)的家系[1]。研究结果表明,该家系的β地贫基因为IVS-Ⅱ-654C→T剪接缺陷型突变,来自母系...
出处 《中华血液学杂志》 CAS CSCD 北大核心 1997年第4期209-210,共2页 Chinese Journal of Hematology
基金 国家自然科学基金 上海生命科学研究中心基金
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参考文献3

  • 1张俊武,生物化学杂志,1995年,11卷,343页
  • 2任兆瑞,中华血液学杂志,1991年,12卷,562页
  • 3Zeng Y T,Blood,1985年,66卷,143页

同被引文献32

  • 1陈剑锋,龙桂芳,林伟雄,陈萍.β地中海贫血杂合子基因突变及Gγ珠蛋白基因-158位点SNP与HbF的关系[J].中华医学遗传学杂志,2004,21(5):498-501. 被引量:11
  • 2蒋南华,梁徐,金琪.广西地区6例重症β地贫复合遗传性持续性胎儿血红蛋白综合征的基因型和临床表现[J].中华血液学杂志,1995,16(4):175-178. 被引量:19
  • 3NGO DA,AYGUN B,AKINSHEYE I, et al. Fetal haemoglobinlevels and haematological characteristics of compound heterozy-gotes for haemoglobin S and deletional hereditary persistence offetal haemoglobin [J].Br J Haematol, 2012,156(2) : 259-264.
  • 4BRAGHINI CA,COSTA FC,FEDOSYUK H, et al. Original re-search : generation of non-deletional hereditary persistence of fe-tal hemoglobin beta-globin locus yeast artificial chromosometransgenic mouse models : -175 Black HPFH and -195 BrazilianHPFH [J].Exp Biol Med (Maywood), 2016,241 (7): 697-705.
  • 5AKINBAMI AO, CAMPBELL AD, HAN ZJ, et al. Hereditarypersistence of fetal hemoglobin caused by single nucleotide pro-moter mutations in sickle cell trait and Hb SC disease [J].Hemoglobin, 2016, 40(1):64-65.
  • 6UGRIN M, STOJILJKOVIC M, ZUKIC B, et al. Functionalanalysis of an (A)-y-Globin gene promoter variant (HBG1 : g.-225一-222delAGCA) underlines its role in increasing fetalhemoglobin levels under erythropoietic stress [J].Hemoglobin,2016,40(l):48-52.
  • 7SANKARAN VG, ORKIN SH. The switch from fetal to adulthemoglobin [J].Cold Spring Harb Perspect Med, 2013,3 (1):a011643.
  • 8PISTIDDA P, FROGHERI L,OGGIANO L,et al. Fetal hemo-globin expression in compound heterozygotes for -117 (G>A)Agamma HPFH and beta zero 39 nonsense thalassemia [J].Am JHematol, 1995,49(4) :267-270.
  • 9DEDOUSSIS GV, SIN0P0UL0U K, GYPARAKI M, et al. Fe-tal hemoglobin expression in the compound heterozygous state for-117 (G > A) A gamma HPFH and IVSII-745 (C > G) beta +thalassemia: a case study [J].Am J Hematol, 1999, 61(2):139-143.
  • 10DEDOUSSIS GV, SIN0P0UL0U K, GYPARAKI M, et al. Fe-tal hemoglobin expression in the compound heterozygous state for-117 (G > A) A gamma HPFH and IVS-1 nt 110 (G > A) be-ta+ thalassemia: a case study [J].Eur J Haematol, 2000,65(2):93-96.

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