1.Combined Genome Mapping of RFLP-AFLP-SSR in Pepper.
Genomics & Informatics 2003;1(2):108-112
We have constructed a molecular linkage map of pepper (Capsicum spp.) in an interspecific F2 population of 107 plants with 320 RFLP, 136 AFLP, and 46 SSR markers. The resulting linkage map consists of 15 linkage groups covering 1,720 cM with an average map distance of 3.7 cM between framework markers. Most RFLP markers (80%) were pepper-derived clones and these markers were evenly distributed all over the genome. Genes for defense and biosynthesis of carotenoids and capsaicinoids were mapped on this linkage map. By using 30 primer combinations, AFLP markers were generated in the F2 population. For development of SSR markers in Capsicum, microsatellites were isolated from two small-insert genomic libraries and the GenBank database. This combined map provides a starting point for high-resolution QTL analysis, gene isolation, and molecular breeding.
Capsicum
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Carotenoids
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Chromosome Mapping*
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Clone Cells
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Databases, Nucleic Acid
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DNA Shuffling
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Genome*
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Genomic Library
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Microsatellite Repeats
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Polymorphism, Restriction Fragment Length
2.Prevalence of chromosome 9 abnormalities among pediatric specimens.
Ying WANG ; Yongzheng PENG ; Xiaojiao CHEN ; Xiaoyan CHE
Chinese Journal of Medical Genetics 2013;30(3):362-364
OBJECTIVETo perform cytogenetic analysis for children, especially newborns suspected for chromosome abnormalities.
METHODSPeripheral blood or born marrow specimens were respectively cultured in proper media. Karyograms were analyzed following G-banding.
RESULTSOf 154 blood specimens, numerical chromosomal abnormalities were identified in 20 patients, which included 19 with trisomy 21. Structural aberrations were identified in 13 patients, among which chromosome 9 aberrations were seen in 6 cases. These included 3 inversions, 1 deletion, 1 insertion and 1 duplication. All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease, peculiar facial appearance, paralysis, dysplasia and/or movement disorder. Chromosome polymorphisms were found in 20 patients, most of which had absence of satellites or variation of heterochromatin on chromosome 9. Of 10 bone marrow specimens from children suspected for acute leukemia, chromosome abnormalities were identified in 5 patients.
CONCLUSIONCytogenetic analysis is useful for children featuring multiple congenital abnormalities. Chromosome 9 abnormalities and their clinical relevance should attract more attention.
Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; epidemiology ; Chromosomes, Human, Pair 9 ; Humans ; Infant ; Infant, Newborn ; Physical Chromosome Mapping ; Prevalence
3.Gene diagnosis of facioscapulohumeral muscular dystrophy.
Jing-li ZHANG ; Ding-guo SHEN ; Ping-kun ZHOU ; Jian-wei LIU ; Ning JIA ; Hong LIU ; Hong-bin WANG ; Su-xia YANG ; Rune R FRANTS
Chinese Journal of Medical Genetics 2003;20(3):232-234
OBJECTIVETo observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).
METHODSGenomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb.
RESULTSIn 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb.
CONCLUSIONIt was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 4 ; genetics ; DNA Fragmentation ; Deoxyribonuclease EcoRI ; metabolism ; Female ; Genes ; Humans ; Male ; Middle Aged ; Molecular Diagnostic Techniques ; Muscular Dystrophy, Facioscapulohumeral ; diagnosis ; genetics ; Restriction Mapping ; Young Adult
4.Genome Mapping of an Extreme Thermophile, Thermus caldophilus GK24.
Jong Hoon PARK ; Byung Chul PARK ; Suk Hoon KOCH ; Joong Soo KIM ; Jeong Heon KOH ; Moon Hee YANG ; Yong Sung KIM ; Cheorl Ho KIM ; Myoung Hee KIM ; Suk Tae KWON ; Dae Sil LEE
Genomics & Informatics 2003;1(1):50-54
Genome of an extreme thermophile, Thermus caldophilus GK24 has been analyzed to construct the genomic map. The genomic DNAs encapsulated in agarose gel were digested with SspI, EcoRI, SpeI, and HpaI restriction endonucleases, and then the resulting genomic DNA fragments were analyzed by pulsed-field gel electrophoresis. Its restriction map has been constructed by analyzing sizes of the restriction fragments obtained from both complete and partial digestions. The circular form of its genome was composed of about 1.98 Mbp and a megaplasmid. The genomic loci for the genes of xylose isomerase, thioredoxin, tRNA-16S rRNA, 23S rRNA, L5 ribosomal protein, ADP-glucose pyrophosphorylase, DNA-ligase, and Tca DNA polymerase were determined by both Southern hybridization and PCR.
Chromosome Mapping*
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DNA
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DNA Restriction Enzymes
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Electrophoresis, Gel, Pulsed-Field
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Genome*
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Glucose-1-Phosphate Adenylyltransferase
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Polymerase Chain Reaction
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Ribosomal Proteins
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Sepharose
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Thermus*
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Thioredoxins
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Xylose
5.Cloning and mapping analysis of cDNA fragment OPB7-1 gene in human lung adenocarcinoma.
Hong FAN ; Yu LI ; Yanqiu DENG ; Yingzhun CHEN ; Huichen FENG ; Songbin FU ; Guiyin ZHANG ; Pu LI
Chinese Journal of Medical Genetics 2003;20(2):156-159
OBJECTIVETo search the candidate gene in the development and metastasis of lung adenocarcinoma and shed light on the possible molecular mechanism of the development of lung carcinoma.
METHODSUsing methods of cell culture, reverse transcription-PCR, RH gene mapping and RNA in situ hybridization.
RESULTSThe cDNA fragment named OPB7-1 was mapped at 1p31-1p34 by RH gene mapping method. The fragment sequences obtained from lung cDNA library of normal person and cell line of AGZY83-a were similar in length but showed individual base difference. For OPB7-1, there is a low homogeneity to known gene by analysis in GenBank, but 3 contigs homologous to OPB7-1 were located at chromosome 1(1p31-1p34). Different degrees of expression were noted in tumor tissues from 24 cases of lung carcinoma, however no significant expression was found in their corresponding normal tissues. And high expression was found in the lung tissues of cases with lymph node metastasis.
CONCLUSIONOPB7-1 may be a novel gene. It may be a tumor related gene in occurrence and metastasis of lung carcinoma.
Adenocarcinoma ; genetics ; Animals ; Chromosome Mapping ; Cloning, Molecular ; DNA, Complementary ; genetics ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; genetics ; Humans ; In Situ Hybridization ; Lung Neoplasms ; genetics ; pathology ; RNA, Neoplasm ; genetics ; metabolism ; Radiation Hybrid Mapping ; Rats ; Tumor Cells, Cultured
7.Chromosomal localization of foreign genes in transgenic mice using dual-color fluorescence in situ hybridization.
Dan LIN ; Xiu-li GONG ; Wei LI ; Xin-bing GUO ; Yi-wen ZHU ; Ying HUANG
Chinese Journal of Medical Genetics 2008;25(1):40-44
OBJECTIVETo establish a highly sensitive and specific dual-color fluorescence in situ hybridization (D-FISH) method used for chromosomal localization of foreign genes in double transgenic mice.
METHODSTwo strains of double transgenic mice were used in this experiment, one was integrated with the herpes simplex virus thymidine kinase (HSV-tk) and the enhanced green fluorescence protein (eGFP), the other was with the short hairpin RNA interference(RNAi) and beta(654). Splenic cells cultured in vitro were arrested in metaphase by colchicine and hybridized with digoxigenin-labeled and biotinylated DNA probes, then detected by rhodamine-conjugated avidin and FITC-conjugated anti-digoxigenin.
RESULTSDual-color fluorescence signals were detected on the same metaphase in both transgenic mice strains. In HSV-tk/eGFP double transgenic mice, strong green fluorescence for HSV-tk and red for eGFP were observed and localized at 2E5-G3 and 8A2-A4 respectively. In beta(654)/RNAi mice, beta(654) was detected as red fluorescence on chromosome 7D3-E2, and RNAi showed random integration on chromosomes. It was detected as green fluorescence on chromosome 12B1 in one mouse, while on 1E2.3-1F and 3A3 in the other.
CONCLUSIONHighly sensitive and specific D-FISH method was established using the self-prepared DNA probes, and chromosomal localization of the foreign genes was also performed in combination with G-banding in double transgenic mice. This technology will facilitate the researches in transgenic animals and gene therapy models.
Animals ; Cells, Cultured ; Color ; Green Fluorescent Proteins ; genetics ; In Situ Hybridization, Fluorescence ; methods ; Mice ; Mice, Transgenic ; Physical Chromosome Mapping ; methods ; Sensitivity and Specificity ; Simplexvirus ; enzymology ; Thymidine Kinase ; genetics ; Transgenes
8.DNA Pooling as a Tool for Case-Control Association Studies of Complex Traits.
Chul AHN ; Terri M KING ; Kyusang LEE ; Seung Ho KANG
Genomics & Informatics 2005;3(1):1-7
Case-control studies are widely used for disease gene mapping using individual genotyping data. However, analyses of large samples are often impractical due to the expense of individual genotyping. The use of DNA pooling can significantly reduce the number of genotyping reactions required; hence reducing the cost of large-scale case-control association studies. Here, we discuss the design and analysis of DNA pooling genetic association studies.
Case-Control Studies*
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Chromosome Mapping
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DNA*
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Genetic Association Studies
9.Progress in research on susceptibility gene mapping of Tic disorder.
Nian LI ; Cui-zhen ZHU ; Yi HUANG
Chinese Journal of Medical Genetics 2010;27(5):517-520
Tic disorder (TD) is a chronic neuropsychiatric disorder with childhood onset. Previous research has demonstrated that genetic factors play an important role in the pathogenesis of TD, and TD is a complex disease affected by multiple genes. Many susceptibility genes have been identified and the relationship between these genes and the etiology of TD was investigated in the past few years. These researches have yielded large valuable information as well as provided a reference for understanding the pathogenesis and further research of this disease. In this paper we reviewed the recent progress in the study on the susceptibility gene mapping of TD.
Chromosome Mapping
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Genetic Predisposition to Disease
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Humans
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Tic Disorders
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genetics
10.Mapping and localization of susceptible genes in asthma.
Chinese Medical Journal 2011;124(1):132-143
OBJECTIVETo elucidate the development of mapping and localization of susceptible genes on chromosomes to asthma related phenotypes.
DATA SOURCESPublished articles about susceptibility genes for asthma related phenotypes were selected using PubMed.
STUDY SELECTIONUsing methods of candidate gene positional clone and genome-wide scan with linkage and association analysis to determine the location in the genome of susceptibility genes to asthma and asthma related phenotypes.
RESULTSThere are multiple regions in the genome harboring susceptibility genes to asthma and asthma related phenotypes, including chromosomes 5, 11, 12, 6, 2, 3, 13, 7, 14, 9, 19 and 17. Many of these regions contain candidate genes involved in asthma development and progression. Some susceptible genes may affect the phenotype expression or response to therapy. In addition, the interaction of multiple genes with the environment may contribute to the susceptibility to asthma.
CONCLUSIONSAs an essential step toward cloning the susceptible genes to asthma, fine mapping and localization on chromosomes are definitely needed. Novel powerful tools for gene discovery and the integration of genetics, biology and bioinformatics should be pursued.
Asthma ; genetics ; Chromosome Mapping ; methods ; Genetic Predisposition to Disease ; genetics ; Humans