1.Progress of gene therapy for hemophilia.
Journal of Experimental Hematology 2015;23(1):266-269
Hemophilia is a hereditary hemorrhagic disease induced by synthesis reducing of clotting factors or functional defect because of genetic mutations, Its treatment methods include traditional replacement therapy and new types of gene therapy. Replacement therapy is to reduce the bleeding complication and prevent the loss of function through the infusion exogenous recombinant coagulation factor, and gene therapy is to import the gene that exogenous code clotting factor into the patients' body by gene transfer technology, and express the treatment level of clotting factors to achieve the purpose of the permanent cure hemophilia. The various factors which affecting effects of the hemophilia's gene therapy include carrier factors, target cell factors, the timing of treatment, immune response caused by carrier. This review summarizes briefly the research progress of the factors affecting the gene therapy for hemophilia.
Blood Coagulation Factors
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Genetic Therapy
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Hemophilia A
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Humans
2.The relationship between genetic factors and plasma lipids in Vietnamese living in rural areas
Thu Nguyet Nghiem ; Anh Do Van Nguyen ; Khan Cong Nguyen ; Mai Thi Tuyet Ta ; Chuyen Van Nguyen
Journal of Preventive Medicine 2008;0(3):13-17
Background: Plasma lipids are affected not only by dietary intake and life style but also by genetic factor. Objective: To discover the relationship between plasma lipids and the presence of LPL S447X and PAF-AH V279F in the bodies of rural Vietnamese population. Subject and Method: One hundred and ninety three subjects were randomly selected from rural areas in Ho Chi Minh city. The presence of LPL S447X and PAF-AHV279F polymorphism was determined using an Invader assay, and the plasma lipid levels were measured by an enzymatic method. A profile regarding the dietary intake was also made for each subject. Result and Conclusion: The frequency of LPL 447SX/XX (12.2%) polymorphism, PAF-AH Val279Phe mutation allele frequency (5.4%) in the Vietnamese was closely similar to that of other Asian populations. LPL447X polymorphism was found to be significantly associated with a higher HDL-C level in comparison to LPL 447S. LPL S447X affects plasma HDL-C and TG concentration in Vietnamese rural population.
Genetic factors
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plasma lipids
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rural area
3.Genetics of complex diseases.
Journal of Zhejiang University. Science. B 2006;7(2):167-168
Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.
Genetic Diseases, Inborn
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genetics
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Genetic Predisposition to Disease
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Genetic Techniques
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Humans
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Inheritance Patterns
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Linkage Disequilibrium
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Models, Genetic
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Polymorphism, Genetic
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Risk Factors
4.From tumor hypoxia to cancer progression: the implications of hypoxia-inducible factor-1 expression in cancers.
Fariz NURWIDYA ; Fumiyuki TAKAHASHI ; Kunihiko MINAKATA ; Akiko MURAKAMI ; Kazuhisa TAKAHASHI
Anatomy & Cell Biology 2012;45(2):73-78
Hypoxia, defined as a decrease of tissue oxygen levels, represents a fundamental pathophysiological condition in the microenvironment of solid tumors. Tumor hypoxia is known to be associated with radio/chemo-resistance and metastasis that eventually lead to cancer progression contributing to poor prognosis in cancer patients. Among transcription factors that accumulated under hypoxic conditions, hypoxia-inducible factor-1 (HIF-1) is a master transcription factor that has received the most intense attention in this field of research due to its capacity to modulate several hundred genes. With a clearer understanding of the HIF-1 pathway, efforts are directed at manipulation of this complex genetic process in order to ultimately decrease cellular HIF-1 levels. Some novel agents have been shown to have HIF-1 inhibition activity through a variety of molecular mechanisms and have provided promising results in the preclinical setting.
Anoxia
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Genetic Processes
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Humans
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Neoplasm Metastasis
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Oxygen
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Prognosis
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Transcription Factors
5.From tumor hypoxia to cancer progression: the implications of hypoxia-inducible factor-1 expression in cancers.
Fariz NURWIDYA ; Fumiyuki TAKAHASHI ; Kunihiko MINAKATA ; Akiko MURAKAMI ; Kazuhisa TAKAHASHI
Anatomy & Cell Biology 2012;45(2):73-78
Hypoxia, defined as a decrease of tissue oxygen levels, represents a fundamental pathophysiological condition in the microenvironment of solid tumors. Tumor hypoxia is known to be associated with radio/chemo-resistance and metastasis that eventually lead to cancer progression contributing to poor prognosis in cancer patients. Among transcription factors that accumulated under hypoxic conditions, hypoxia-inducible factor-1 (HIF-1) is a master transcription factor that has received the most intense attention in this field of research due to its capacity to modulate several hundred genes. With a clearer understanding of the HIF-1 pathway, efforts are directed at manipulation of this complex genetic process in order to ultimately decrease cellular HIF-1 levels. Some novel agents have been shown to have HIF-1 inhibition activity through a variety of molecular mechanisms and have provided promising results in the preclinical setting.
Anoxia
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Genetic Processes
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Humans
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Neoplasm Metastasis
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Oxygen
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Prognosis
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Transcription Factors
6.Genetic characterization of G II.12 norovirus in Beijing from 2008 to 2009.
Ke-Na CHEN ; Geng TIAN ; Miao JIN ; Hui-Ying LI ; Quan-Rui LI ; Li-Hong KANG ; Cui-Hong ZHANG ; Xiang-Yu KONG ; Ji-In GAO ; Zhao-Jun DUAN
Chinese Journal of Experimental and Clinical Virology 2013;27(3):184-186
OBJECTIVETo reveal the genetic characteristics of GII.12 Norovirus strains isolating from stool samples of adults with diarrhea in Beijing during 2008-2009.
METHODSRdRp, ORF2, ORF3 and ORF1/ORF2 overlap region were respectively amplified by primers using RT-PCR. The products were purified, cloned, sequenced and then aligned, phylogenetic and recombinant analyzed by softwares of DNAStar, MEGA and SimPlot.
RESULTSAccording to the phylogenetic analysis, 11 strains belonged to G II.g in the RdRp region,while GII.12 in the ORF2 and ORF3. SimPlot analysis further confirmed the 11 strains were recombinant strains ( G II.g [RdRp]/G II.12 [capsid]).
CONCLUSIONG II.12 Norovirus prevailing in Beijing and other regions of the world belonged to the same strain, and we identified the genetic characteristics of G II.12 Norovirus in Beijing.
China ; Norovirus ; classification ; genetics ; Phylogeny ; Recombination, Genetic ; Time Factors
7.Progress of study on the transcription factor SALL4.
Jiang LIN ; Run-Bi JI ; Jun QIAN
Journal of Experimental Hematology 2011;19(3):820-823
SAL-like 4 (SALL4) locating at chromosome 20q13.13-13.2 encodes a newly identified transcription factor containing 8 zinc finger motif. Recent studies have revealed the important role of SALL4 gene in the regulation of early embryonic development, organogenesis, and proliferation and pluripotency of embryonic stem cells. The heterozygous mutations of SALL4 in different loci, causing nonsense mutation or frameshift mutation, and resulting in genesis of premature terminal codon, are correlated with autosomal dominant hereditary diseases such as Okihiro syndrome, acro-renal-ocular syndrome and IVIC syndrome. The level of SALL4 expression is increased in germ cell tumors, hepatoid gastric carcinoma, acute myeloid leukemia, B-precursor cell leukemia/lymphoma and myelodysplastic syndrome. This review focuses on the structure and function of SALL4 gene as well as its relevance to related diseases.
Genetic Diseases, Inborn
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genetics
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Humans
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Mutation
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Transcription Factors
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genetics
8.Prenatal Genetic Test.
Journal of Genetic Medicine 2011;8(2):100-104
Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention to the genetic test for a fetus. Because the fetus has no autonomy, ethical and social issues can arise. Therefore, appropriate genetic counseling is needed for parents to be informed with the characteristics, natural progress, and possible treatment of a genetic disease, prior to the prenatal genetic test. Physicians should also inform parents how a particular genetic risk factor relates with the likelihood of a disease, in order to assist the parents in making the best decision. Furthermore, the current law for prenatal genetic testing should be approached rationally.
Biological Science Disciplines
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Fetus
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Genetic Counseling
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Genetic Testing
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Humans
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Jurisprudence
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Parents
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Risk Factors
9.Construction and practice of cancer genetic clinic.
Wu JIANG ; Xiaodan WU ; Yuan LI ; Peirong DING
Chinese Journal of Medical Genetics 2021;38(1):92-95
OBJECTIVE:
To explore the effect and precautions of setting up a genetic clinic for hereditary colorectal cancers.
METHODS:
To collect the information of the patients who received genetic screening and genetic counseling at our hospital from January 2016 to June 2018, and analyze the role of family history collection and follow-up management.
RESULTS:
The detection rate of family history of tumors has increased by 13.6%. Follow up management was carried out in 156 families with hereditary colorectal cancer confirmed by detection of germline mutations. Five cases of early colorectal cancers and 12 cases of adenomatous polyps were detected and treated.
CONCLUSION
To set up genetic clinic is helpful to standardize the management of high-risk population, and attention should be paid to the role of family history collection and follow-up management.
Colorectal Neoplasms/surgery*
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Genetic Counseling
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Genetic Testing/standards*
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Germ-Line Mutation
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Humans
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Risk Factors
10.De novo construction of mammalian synthetic inhibitory transcription factor and promoter pairs.
Zijie YANG ; Yijie PAN ; Yiming CAI ; Tong FU ; Ao FENG ; Yan LIU ; Yiheng WANG ; Xinxuan XIONG ; Liang CAI
Chinese Journal of Biotechnology 2018;34(12):1886-1894
Transcriptional regulation is crucial for regulated gene expression. Due to the complexity, it has been difficult to engineer eukaryotic transcription factor (TF) and promoter pairs. The few availabilities of eukaryotic TF and promotor pairs limit their practical use for clinical or industrial applications. Here, we report a de novo construction of synthetic inhibitory transcription factor and promoter pairs for mammalian transcriptional regulation. The design of synthetic TF was based on the fusion of DNA binding domain and Kruppel associated box transcription regulating domain (KRAB). The synthetic promoter was constructed by inserting the corresponding TF response element after SV40 promoter. We constructed and tested five synthetic inhibitory transcription factor and promoter pairs in cultured mammalian cells. The inhibition capability and orthogonality were verified by flow cytometry. In summary, we demonstrate the feasibility of constructing mammalian inhibitory TF and promoter pairs, which could be standardized for advanced gene-circuit design and various applications in the mammalian synthetic biology.
Animals
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Gene Expression Regulation
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Gene Regulatory Networks
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Mammals
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Promoter Regions, Genetic
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Transcription Factors
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Transcription, Genetic