4.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
5.Disease gene identification: opportunities and challenges.
Acta Academiae Medicinae Sinicae 2005;27(3):263-264
The recent achievements of the Human Genome Project make it increasingly feasible to determine the genetic basis of human diseases, especially complex traits. Genomics will provide powerful means to discover hereditary elements that interact with environmental factors leading to diseases. However, the expected transformation toward genomics-based medicine will occur over decades, which requires the joint efforts of many scientists and physicians. Such transformation provides both opportunities and challenges to everyone involved in this field.
Genetic Diseases, Inborn
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genetics
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Genetic Predisposition to Disease
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genetics
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Genetic Testing
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Human Genome Project
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Humans
6.Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders.
Nuli REBIYA ; Mohemaiti PATAMU
Chinese Journal of Medical Genetics 2011;28(5):525-527
The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.
Exome
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genetics
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Genetic Association Studies
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Genetic Diseases, Inborn
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genetics
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Humans
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Sequence Analysis, DNA
7.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
9.Genotype analysis and personalized medicine.
Chinese Journal of Pathology 2011;40(10):651-654
10.Progress of research on biochemistry characteristics of cell-free fetal DNA in maternal plasma and its application.
Chinese Journal of Medical Genetics 2007;24(3):314-318
Cell-free fetal DNA in maternal plasma of pregnant woman, originated from fetal and / or placental cells undergoing apoptosis, is mainly the short-sized DNA fragments of less than 313 base pairs in length for the sake of nuclear endonuclease selectively cleaving fetal DNA during the apoptosis process. The mean cell-free circulating fetal DNA in maternal plasma accounted for 3.4% and 6.2% of plasma total DNA during the early and the late gestation, respectively. Owing to its relative abundance, circulating fetal DNA in maternal plasma has now become the important DNA source for non-invasive prenatal molecular genetic diagnosis and it is widely used in fetal sex-determination, detection of fetal Rh (D) sequence in the plasma of the rhesus-negative woman, fetal aneuploidy detection, fetal STR genotyping and other clinical applications. Cell-free fetal DNA source, concentration, purity, size, distributions and postnatal clearance of fetal DNA in maternal plasma as well as the reported clinical applications are summarized and discussed in this paper. Based on the molecular characteristics of cell-free fetal DNA and the target gene, the using of appropriate molecular diagnosis strategy and experimental design as well as reducing the fragment size of PCR product and adjusting the PCR conditions to the optimum enable the improvement of non-invasive prenatal diagnosis accuracy.
Cell-Free System
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DNA
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blood
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metabolism
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Fetus
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metabolism
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Genetic Diseases, Inborn
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diagnosis
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genetics
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Humans
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Mothers