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Dissertations / Theses on the topic 'Beta globin gene mutations'

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Published: 7 June 2025

Last updated: 16 July 2025

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1

Tsang, Ho-yin, and 曾皓言. "Detection of clinically silent beta-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48334182.

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Mutations in the beta-globin (β-globin) gene cause beta-thalassaemia (β-thalassaemia).The screening strategy for β-thalassaemiais based on the value of mean corpuscular volume (MCV) from the complete blood count (CBC) data. Current laboratory practice considers blood samples with MCV higher than 80fL as normal. No further assessment will be done on these samples. However, there are clinically silent β-globin gene mutations with MCV higher than 80fL, for example, heterozygous haemoglobin E (HbE). The importance of finding out this kind of mutations is due to the serious outcome when they occur

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2

Daar, Shahina Firdos. "Haemoglobinopathies in the Sultanate of Oman : a study of clinically significant beta globin gene mutations." Thesis, University of Bristol, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.340440.

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3

Martinez, Patricia. "Génétique moléculaire des hémophilies et des anomalies du gène de la béta-globine : mise en place du diagnostic en Languedoc-Roussillon et contribution à l'étude des mutations." Montpellier 1, 1993. http://www.theses.fr/1993MON1T022.

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4

Au, Mun-yee Deborah. "Molecular studies of rat [beta]-globin gene cluster." Click to view the E-thesis via HKUTO, 1996. http://sunzi.lib.hku.hk/hkuto/record/B31234598.

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5

Schneider, Julie Ann. "Genetic recombination in the human beta-globin gene cluster." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312640.

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6

Aguileta, Estrada Elizabeth Gabriela. "The evolution of the vertebrate beta globin gene family." Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446501/.

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This thesis covers different aspects of the evolution of the vertebrate beta globin gene family. A wealth of data on globins has been accumulated over decades of work in diverse areas, this information, together with the use of new methods, allowed a comprehensive analysis of beta globins. First, a review on the current knowledge of gene family evolution is made and the general objectives of the thesis are stated. This introductory chapter is followed by the careful analysis of the beta globin phylogeny comparing different reconstruction methods and discussing the differences between species a

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7

Wrighton, N. C. "Transcription factors regulating the human beta-globin genes." Thesis, University College London (University of London), 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.382204.

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8

Liu, Ka-wun Ada, and 劉嘉媛. "Detection of uncommon globin gene mutations causing unexplained microcytosis in Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48421285.

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The thalassaemias are the commonest monogenic disorders in the world population. They occur at a particularly high frequency in Mediterranean regions and Southeast Asia, which cause a massive public health problem. In Hong Kong, the prevalence of heterozygous carriers of α or β thalassaemia mutations is approximately 8% [1]. Thalassaemia is characterized by the reduced synthesis of one or more normal globin chains. This causes globin chain imbalance and finally leads to hypochromic microcytic anaemia. Different types of thalassaemia are named according to the under-produced chains. The maj

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9

Ho, Phoebe Joy. "The analysis of genetic factors regulating beta globin gene expression." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363959.

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10

Talbot, Dale John. "Characterization of the human #beta#-globin Locus Control Region." Thesis, University College London (University of London), 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.290990.

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11

Kulozik, A. E. "Factors influencing the expression of the human #beta# globin gene cluster." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.376529.

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12

Hanscombe, Olivia. "The global regulation of the human #beta#-like globin gene locus." Thesis, University College London (University of London), 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.292291.

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13

Cooper, Steven J. B. "A molecular and evolutionary study of the [beta]-globin gene family of Sminthopsis crassicaudata /." Title page, contents and summary only, 1991. http://web4.library.adelaide.edu.au/theses/09PH/09phc7782.pdf.

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14

Chan, Ping-kei. "The study of the regulatory elements of the human [beta]-globin gene." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31999062.

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15

Strouboulis, Ioannis John. "Regulation of the complete human #beta#-globin gene locus in transgenic mice." Thesis, Open University, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239790.

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16

Armstrong, Jennifer A. "Chromatin structure and transcriptional regulation within the human [beta]-globin gene locus /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 1998. http://wwwlib.umi.com/cr/ucsd/fullcit?p9835284.

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17

蘇昭燕 and Chiu-yin So. "Molecular characterization of large deletions in beta globin gene cluster using multiplex ligation-dependent probe amplification." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40738164.

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18

So, Chiu-yin. "Molecular characterization of large deletions in beta globin gene cluster using multiplex ligation-dependent probe amplification." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B40738164.

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19

Lisowski, Leszek. "Lentivirus-mediated globin gene transfer for the treatment of severe hemoglobinopathies /." Access full-text from WCMC, 2008. http://proquest.umi.com/pqdweb?did=1528359391&sid=1&Fmt=2&clientId=8424&RQT=309&VName=PQD.

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20

Ho, Sophia KW, and 何廣慧. "Detection of clinically silent alpha-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/206558.

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α-thalassemia is an inherited globin gene disorder commonly found among the Chinese population. It is composed of both non-deletional and deletional α-globin gene mutations. Classical α-thalassemia presents with red cell microcytosis but silent cases with a normal mean corpuscular volume (MCV) are also seen. Routine laboratory testing methods for large-scale detection of silent α-thalassemia mutations are onerous and time-consuming. Furthermore, methods such as denaturing high performance liquid chromatography (HPLC) or denaturing gradient gel electrophoresis (DGGE) for scanning of point muta

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21

Lynch, J. R. "The molecular basis of #beta# thalassaemia." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.379949.

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22

Alhashem, Yousef. "ROLES OF KRÜPPEL LIKE FACTORS KLF1, KLF2, AND KLF4 IN EMBRYONIC BETA-GLOBIN GENE EXPRESSION." VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1880.

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Krüppel like factors (KLFs) are a family of 17 proteins whose main function is gene regulation by binding to DNA elements in the promoters of various genes. KLF transcription factors recognize CACCC-elements and act as activators or repressors of the gene expression. Among the 17 family members, KLF1, KLF2, and KLF4 share high homology to each other. KLF1 is the founding member of the family and is an erythroid-specific protein. KLF2 is expressed in erythroid, endothelial, and other cells. KLF4 is expressed in endothelial, smooth muscle, and other cells. In this thesis, the functions of these

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23

王偉明 and Wai-ming Wong. "The cloning and characterization of a beta-globin gene in the Sprague-Dawley rat." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1992. http://hub.hku.hk/bib/B31233296.

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24

Wong, Wai-ming. "The cloning and characterization of a beta-globin gene in the Sprague-Dawley rat /." Hong Kong : University of Hong Kong, 1992. http://sunzi.lib.hku.hk/hkuto/record.jsp?B1344427X.

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25

Williams, Gregory John. "Transcription factor binding of CACCC boxes in the [alpha] and [beta] globin gene clusters." Thesis, The University of Sydney, 1995. https://hdl.handle.net/2123/27484.

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The CACCC box is one of several transcription factor binding motifs distributed throughout the regulatory regions of the 0t and B globin loci. It has been reported in the promoters of the human 8, y. B and C-globin genes and the mouse Bmaj-globin gene. as well as in both the major enhancer associated with the a-globin locus, the oc HS—4O and B-globin locus control region (B LCR). It is also found in regulatory regions of a number of other genes, both erythroid and non erythroid. The sequence has been demonstrated to be required for B—globin promoter function in a variety of tissue types. There

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26

Vannocci, Tommaso. "Development and characterisation of a zinc finger nuclease specific for the human beta-globin gene." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/17876.

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β-thalassemia and sickle cell disease, which are caused by mutations in the β-globin gene, are two of the most common single gene disorders worldwide and the only available cure is allogeneic bone marrow transplantation that is limited by donor availability. Gene therapy, by delivery of a β-globin expression vector into autologous haematopoietic stem cells, is a valuable alternative but the technique is affected by unpredictable protein expression levels and, more significantly, by random integration of the vector and the risk of insertional oncogenesis. Gene correction by Homologous Recombina

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27

Ghansah, Anita. "Analysis of disease association and evolutionary selection of human beta globin gene variants in Ghana." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536669.

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28

Webster, Matthew Thomas. "Molecular and population genetic analysis of allelic sequence diversity in the human #beta#-globin gene cluster." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365781.

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29

Fung, Wai-kei Vicky, and 馮慧琪. "Detection of non-deletional mutations of {221} globin gene cluster in patients with unexplained {221} thalassaemia and hereditarypersistence of fetal haemoglobin." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45160600.

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30

SEBILLON, PASCALE. "Analyse d'une mutation t->g dans le second intron du gene de la beta-globine chez un patient beta-thalassemique : role de la sequence polypyrimidique dans l'epissage." Paris 6, 1995. http://www.theses.fr/1995PA066465.

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La maturation des arns est un phenomene deja bien etudie. Pourtant de nombreux points n'ont pas encore ete completement elucides et notamment, le role de la sequence polypyrimidique et celui des proteines interagissant avec celle-ci. Dans ce travail, nous avons tente de mieux comprendre le mecanisme de l'epissage a travers l'etude d'une mutation naturelle situee dans la sequence polypyrimidique du deuxieme intron du gene de -globine humaine. Les resultats montrent que le precurseur mute presente, sur le plan quantitatif, une efficacite d'epissage plus faible comparee au precurseur normal, sans

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31

Rupon, Jeremy William. "The Role of DNA Methylation and Methyl Binding Domain Protein 2 in the Regulation of Human Embryonic and Fetal Beta Type Globin Genes." VCU Scholars Compass, 2006. http://hdl.handle.net/10156/1833.

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32

Andrade, Tiago Gomes de. "Mecanismos reguladores da sintese de globinas : avaliação funcional da região R/PYR e analise da expressão genica diferencial na persistencia hereditaria de hemoglobina fetal e na delta-beta talassemia." [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309323.

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Orientador: Fernando Ferreira Costa<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-06T00:23:27Z (GMT). No. of bitstreams: 1 Andrade_TiagoGomesde_D.pdf: 2136964 bytes, checksum: be76264a603d3b420701714d5a04072b (MD5) Previous issue date: 2006<br>Resumo: Persistência Hereditária de Hemoglobina Fetal (PHHF) consiste num grupo heterogêneo de alterações hereditárias, sem manifestações clínicas significativas, onde ocorrem falhas na mudança perinatal normal de hemoglobina fetal para hemoglobina adulta, resultando em alt

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33

GalvÃo, LÃvia Monteiro. "Beta globin s gene haplotypes study, vascular endothelial growth factor-a (VEGF-A), fetal hemoglobin and clinical manifestations in patients with sickle cell disease." Universidade Federal do CearÃ, 2016. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=17633.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior<br>A anemia falciforme (AF) Ã uma doenÃa hereditÃria decorrente de uma mutaÃÃo pontual no gene da globina βS gerando uma hemoglobina anormal denominada de hemoglobina S (HbS) , que quando desoxigenada sofre polimerizaÃÃo favorecendo o fenÃmeno de vaso-oclusÃo, dano endotelial vascular e a expressÃo de fatores angiogÃnicos. Fatores genÃticos como os haplÃtipos da beta globina S sÃo responsÃveis pelas diferenÃas clÃnicas entre os pacientes. O objetivo deste trabalho foi verificar a associaÃÃo dos haplÃtipos da globina βs com o

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34

Liska, Olga. "Effect of CTCF and Cohesin on the dynamics of RNA polymerase II transcription and coupled pre-messenger RNA processing." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:ba9454b8-4498-42c8-bc4c-16dd971af164.

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The CCCTC-binding factor (CTCF) is a versatile, multifunctional zinc-finger protein involved in a broad spectrum of cellular functions. In mammalian cells, CTCF functions together with the Cohesin complex, an essential regulator of sister chromatid cohesion. Together, CTCF and Cohesin have been shown to regulate gene expression at a genome-wide level in mammalian cells. In the yeast Saccharomyces pombe, Cohesin has been implicated in transcription termination of convergently transcribed genes, in a cell cycle dependent manner. The aim of this thesis was to investigate the possibility of direct

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35

Ostrander, Jesse Carl. "Assessment of susceptibility of creeping bentgrass cultivars to dollar spot, sensitivity of Kansas isolates of Sclerotinia homoeocarpa to demethylation inhibitor fungicides, and determination of mutations in beta-tubulin gene associated with resistance." Thesis, Kansas State University, 2014. http://hdl.handle.net/2097/17293.

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Master of Science<br>Department of Plant Pathology<br>Megan Kennelly<br>Dollar spot disease of turfgrass, caused by the fungus Sclerotinia homoeocarpa, is the most economically important disease of intensively managed turfgrass such as creeping bentgrass (Agrostis stolonifera) in golf course fairways and putting greens. While several cultural management practices can lessen the severity of the disease, fungicide applications are necessary to manage the disease to acceptable levels. Host resistance is another avenue of improving the quality of turfgrass in response to dollar spot disease, but

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36

Schwarz-Muche, Claudia. "Molekulare Charakterisierung der b -Thalassämie bei Probanden deutscher Herkunft." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 1998. http://dx.doi.org/10.18452/14475.

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Die b -Thalassämie gehört weltweit zu den häufigsten monogenen Erbkrankheiten. Die Thalassämien treten endemisch in der Bevölkerung des Mittelmeerraumes, in Westafrika und in weiten Teilen Asiens auf. In der einheimischen Bevölkerung der Bundesrepublik Deutschland gehört die homozygote Form der b -Thalassämie zu den seltenen Erkrankungen. Häufiger ist das Auftreten der heterozygoten Form, die als Differentialdiagnose der mikrozytären, hypochromen Anämie eine besondere Rolle spielt. Blutproben von 214 deutschen Personen mit einer heterozygoten b -Thalassämie wurden mittels Allel-spezifischer Ol

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37

Kierlin-Duncan, Monique Natasha. "Using nucleic acids to repair [beta] -globin gene mutations." Diss., 2007. http://hdl.handle.net/10161/178.

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38

Kierlin-Duncan, Monique Natasha. "Using Nucleic Acids to Repair β-Globin Gene Mutations". Diss., 2007. http://hdl.handle.net/10161/178.

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Nucleic acids are an emerging class of therapeutics with the capacity to repair both DNA and RNA mutations in clinically relevant targets. We have used two approaches, mobile group II introns and Spliceosome Mediated RNA Trans-splicing (SMaRT), to correct β-globin mutations at the DNA and RNA levels respectively. We show that the group II intron inserts site-specifically into its DNA target, even when similar targets are available. Experiments transitioning this therapeutic into mammalian cell systems are then described. We also illustrate how SMaRT RNA repair can be used to correct β-globin m

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39

Shesely, Edward G. "Correction of a human [beta]s-globin gene by gene targeting." 1992. http://catalog.hathitrust.org/api/volumes/oclc/30635368.html.

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40

Röll, Sabine [Verfasser]. "Expression der Gene β-Globin [Beta-Globin], y-Globin [Gamma-Globin] und Glycophorin A in myeloischen Kolonien bei Kindern mit juveniler myelomonozytärer Leukämie / von Sabine Röll". 2001. http://d-nb.info/961549033/34.

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41

Sloan, Angela M. "Atypical molecular evolution of afrotherian and xenarthran [beta]-globin cluster genes with insights into the [beta]-globin cluster gene organization of stem eutherians." 2005. http://hdl.handle.net/1993/20868.

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42

Gesiotto, Quinto. "Beta-globin gene cluster haplotypes in sickle cell disease: polymorphisms of the Arab Indian haplotype." Thesis, 2015. https://hdl.handle.net/2144/16291.

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The HbS gene had a limited number of origins during history, and these can be defined by the haplotype (a set of DNA polymorphisms inherited together) of the associated β-globin gene. Five major haplotypes have been identified, and associated with different ethnic groups. These are the Arab Indian haplotype, the Benin haplotype, the Cameroonian haplotype, the Central African Republic (CAR) or Bantu haplotype, and the Senegal haplotype. The polymorphisms defining these haplotypes are associated with fetal hemoglobin, the major modifier of sickle cell disease phenotype and severity. The Arab Ind

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43

Cooper, Steven J. B. (Steven John Baynard). "A molecular and evolutionary study of the [beta]-globin gene family of Sminthopsis crassicaudata / by Steven J.B. Cooper." 1991. http://hdl.handle.net/2440/19474.

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Bibliography: leaves 212-235<br>xix, 248, [28] leaves, [15] leaves of plates : ill ; 30 cm.<br>Title page, contents and abstract only. The complete thesis in print form is available from the University Library.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Genetics, 1992

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44

Cooper, Steven John Baynard. "A molecular and evolutionary study of the [beta]-globin gene family of Sminthopsis crassicaudata / by Steven J.B. Cooper." Thesis, 1991. http://hdl.handle.net/2440/19474.

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45

Hewitt, Rachel. "An investigation into the ancestry of the Malagasy population using variation in the alpha- and beta-globin gene cluster." Thesis, 2014.

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Thesis (M.Sc. (Med.))--University of the Witwatersrand, Faculty of Health Sciences, 1998.<br>The issue of Malagasy ancestry has been controversial, and has still not been completely resolved. The historical, linguistic, archaeological and some genetic evidence points to the fact that modern Malagasy are the descendants of immigrants who arrived on the island over the past 2000 years, from South and Southeast Asia, Africa and the Near East. In more recent centuries, mainly in the twentieth century, there have been significant numbers of Indian, Chinese and French immigrants. In addition,

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46

Oliveira, Sandra. "Revisiting an old evolutionary question: did the S mutation of the B-globin gene result from a single or multiple mutations?" Dissertação de mestrado, 2011. http://hdl.handle.net/10216/65063.

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47

Oliveira, Sandra Raquel da Silva. "Revisiting an old evolutionary question: did the S mutation of the B-globin gene result from a single or multiple mutations?" Master's thesis, 2012. https://repositorio-aberto.up.pt/handle/10216/75348.

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48

Oliveira, Sandra Raquel da Silva. "Revisiting an old evolutionary question: did the S mutation of the B-globin gene result from a single or multiple mutations?" Dissertação, 2012. https://repositorio-aberto.up.pt/handle/10216/75348.

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49

Sullivan, Thomas Dermot. "Studies of globin gene expression in differentiating erythroid cells (1) the role of cell division rate on the differential expression of human [gamma] and [beta] globin genes; (2) the effect of messenger RNA stability and translational efficiency on the differential expression of human [gamma] and [beta] globin genes; (3) the role of protein synthesis factors in the loss of protein synthetic capacity during aging of mouse reticulocytes /." 1985. http://catalog.hathitrust.org/api/volumes/oclc/13366013.html.

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