• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Inheritance of F cell frequency in heterocellular hereditary persistence of fetal hemoglobin: an example of allelic exclusion.

作者信息

Boyer S H, Margolet L, Boyer M L, Huisman T H, Schroeder W A, Wood W G, Weatherall D J, Clegg J B, Cartner R

出版信息

Am J Hum Genet. 1977 May;29(3):256-71.

PMID:868872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685306/
Abstract

Two kindreds are described in which F cell frequency is inherited. These families differ in ethnic origin, the mean quantity of HbF per F cell, and in G gamma: A gamma ratios. Heterozygotes have approximately 50% F cells while homozygotes have close to 100%. Semiquantitative single cell immunodiffusion assays establish that F cells contain all of the HbF found in heterozygotes. Our finding that the gene for this heterocellular form of hereditary persistence of fetal hemoglobin is expressed in only half the cells provides the first example of allelic exclusion known apart from immunoglobulin expression.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/37809de574ab/ajhg00207-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/d39d1d43530a/ajhg00207-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/585cfa9fcb86/ajhg00207-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/0b46833b80c1/ajhg00207-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/37809de574ab/ajhg00207-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/d39d1d43530a/ajhg00207-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/585cfa9fcb86/ajhg00207-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/0b46833b80c1/ajhg00207-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46bc/1685306/37809de574ab/ajhg00207-0044-a.jpg

相似文献

1
Inheritance of F cell frequency in heterocellular hereditary persistence of fetal hemoglobin: an example of allelic exclusion.
Am J Hum Genet. 1977 May;29(3):256-71.
2
A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait.黑人胎儿血红蛋白遗传性持续存在的一种新形式及其与镰状细胞性状的关联。
Blood. 1975 Nov;46(5):683-92.
3
Non-anemic homozygous beta(o) thalassemia in an African-American family: association of high fetal hemoglobin levels with beta thalassemia alleles.一个非裔美国家庭中的非贫血型纯合β⁰地中海贫血:高胎儿血红蛋白水平与β地中海贫血等位基因的关联
Am J Hematol. 2001 Sep;68(1):43-50. doi: 10.1002/ajh.1147.
4
Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults.
Science. 1975 Apr 25;188(4186):361-3. doi: 10.1126/science.804182.
5
Individual variation in the production and survival of F cells in sickle-cell disease.镰状细胞病中F细胞产生和存活的个体差异。
N Engl J Med. 1978 Dec 28;299(26):1428-35. doi: 10.1056/NEJM197812282992603.
6
Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster.胎儿血红蛋白的异细胞遗传性持续存在(HPFH)。与β地中海贫血相关的γ基因异常表达的分子机制以及与β珠蛋白基因簇的连锁关系。
Hum Genet. 1984;66(2-3):151-6. doi: 10.1007/BF00286590.
7
Hereditary persistence of fetal hemoglobin. Heterogeneity of fetal hemoglobin in homozygotes and in conjunction with -thalassemia.胎儿血红蛋白遗传性持续存在。纯合子及合并β地中海贫血时胎儿血红蛋白的异质性。
N Engl J Med. 1971 Sep 23;285(13):711-6. doi: 10.1056/NEJM197109232851303.
8
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population.与血红蛋白F(HB F)生成增加相关的β地中海贫血。在意大利南部人群中存在与β地中海贫血相关的胎儿血红蛋白(HPFH)决定簇异细胞遗传性持续存在的证据。
Hemoglobin. 1981;5(1):1-17. doi: 10.3109/03630268108996907.
9
Sickle cell anemia and trait in southern India: further studies.
Am J Hematol. 1979;6(2):107-23. doi: 10.1002/ajh.2830060203.
10
Fetal hemoglobin-containing cells have the same mean corpuscular hemoglobin as cells without fetal hemoglobin: a reciprocal relationship between gamma- and beta-globin gene expression in normal subjects and in those with high fetal hemoglobin production.
Blood. 1987 Apr;69(4):1109-13.

引用本文的文献

1
Fetal hemoglobin rescues ineffective erythropoiesis in sickle cell disease.胎儿血红蛋白可挽救镰状细胞病无效的红细胞生成。
Haematologica. 2021 Oct 1;106(10):2707-2719. doi: 10.3324/haematol.2020.265462.
2
Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia.使用CRISPR-Cas9进行基因组编辑以在造血干细胞中创建HPFH基因型:一种治疗镰状细胞病和β地中海贫血的方法。
Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):10661-5. doi: 10.1073/pnas.1612075113. Epub 2016 Sep 6.
3
Identification of inherited protein variants in individual erythrocytes.

本文引用的文献

1
STUDIES ON HEMOGLOBIN F WITHIN SINGLE ERYTHROCYTE BY FLUORESCENT ANTIBODY TECHNIQUE.
Exp Cell Res. 1965 Mar;37:680-3. doi: 10.1016/0014-4827(65)90215-6.
2
SLIGHT INCREASE OF FETAL HEMOGLOBIN IN APPARENTLY HEALTHY NEGROES.
Acta Haematol. 1965 May;33:312-9. doi: 10.1159/000209541.
3
A NEW SEROLOGICAL METHOD FOR THE DETECTION OF FETAL HEMOGLOBIN IN THE SINGLE ERYTHROCYTE.
Yokohama Med Bull. 1964 Aug;15:117-26.
4
The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia.持续性胎儿血红蛋白的纯合状态以及持续性胎儿血红蛋白与地中海贫血的相互作用。
个体红细胞中遗传性蛋白质变体的鉴定。
Biochem Genet. 1980 Jun;18(5-6):455-63. doi: 10.1007/BF00484394.
4
Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant.Gγ(β)+遗传性胎儿血红蛋白持续存在症和一种中国Aγ遗传性胎儿血红蛋白持续存在症变体中γ-δ-β-珠蛋白区域的限制性内切酶图谱分析
Am J Hum Genet. 1983 Jul;35(4):611-20.
5
Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH.γ基因表达的遗传调控:β地中海贫血与异细胞遗传性胎儿血红蛋白持续存在症相互作用的研究
Hum Genet. 1981;57(4):371-5. doi: 10.1007/BF00281687.
6
Cellular mechanisms for increased fetal hemoglobin production in culture. Evidence for continuous commitment to fetal hemoglobin production during burst formation.培养中胎儿血红蛋白产生增加的细胞机制。爆发形成过程中持续致力于胎儿血红蛋白产生的证据。
J Clin Invest. 1980 Nov;66(5):1175-8. doi: 10.1172/JCI109949.
7
One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population.在南斯拉夫人群中,一种单倍型与瑞士型胎儿血红蛋白遗传性持续存在相关。
Hum Genet. 1987 Oct;77(2):132-6. doi: 10.1007/BF00272379.
8
Thalassaemia types and their incidence in Sardinia.撒丁岛的地中海贫血类型及其发病率。
J Med Genet. 1978 Dec;15(6):443-7. doi: 10.1136/jmg.15.6.443.
9
G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C.与血红蛋白C相关的胎儿血红蛋白遗传性持续存在的Gγβ+型
J Med Genet. 1979 Aug;16(4):288-95. doi: 10.1136/jmg.16.4.288.
10
Production of erythrocytes that contain fetal hemoglobin in anemia. Transient in vivo changes.贫血时含有胎儿血红蛋白的红细胞生成。体内短暂变化。
J Clin Invest. 1979 Feb;63(2):173-6. doi: 10.1172/JCI109286.
Bull Johns Hopkins Hosp. 1961 Nov;109:217-33.
5
Estimation of small percentages of foetal haemoglobin.微量胎儿血红蛋白的测定。
Nature. 1959 Dec 12;184(Suppl 24):1877-8. doi: 10.1038/1841877a0.
6
[Demonstration of fetal hemoglobin in erythrocytes of a blood smear].[血涂片红细胞中胎儿血红蛋白的显示]
Klin Wochenschr. 1957 Jun 15;35(12):637-8. doi: 10.1007/BF01481043.
7
Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex.血红蛋白异质性研究。13. 不同人类和动物血红蛋白类型在二乙氨基乙基葡聚糖凝胶(DEAE - Sephadex)上的色谱分析。
J Chromatogr. 1968 Feb 20;32(4):723-7. doi: 10.1016/s0021-9673(01)80551-3.
8
An adult homozygous for persistent fetal hemoglobin.一名成人胎儿血红蛋白持续存在纯合子。
Ann Intern Med. 1970 Apr;72(4):533-6. doi: 10.7326/0003-4819-72-4-533.
9
An improved method for quantitative determination of human fetal hemoglobin.一种改进的定量测定人胎儿血红蛋白的方法。
Anal Biochem. 1970 May;35(1):235-43. doi: 10.1016/0003-2697(70)90030-8.
10
A possible subclass of the hereditary persistence of fetal hemoglobin.
Blood. 1970 Jul;36(1):1-9.