1.Analysis of genetic diversity and genetic relationships of Lonicera macranthoides cultivars.
Daxia CHEN ; Xue ZHANG ; Longyun LI
China Journal of Chinese Materia Medica 2012;37(13):1912-1916
OBJECTIVETo study genetic diversity and genetic relationships among Lonicera macranthoides cultivars.
METHODFive cultivars were estimated by ISSR and SRAP. The data of amplified bands were analyzed by Treeconw software. The system diagram of genetic relationship was built by UPGMA.
RESULTTwenty ISSR primers amplified 186 bands with 103 (54.63%) polymorphic bands and 58 SRAP primer combinations amplified 591 bands with 347(55.46%) polymorphic bands. Genetic distance ranges were 0.058 4-0.230 8 (by ISSRs) and 0.1071-0.2611 (by SRAPs). Both ISSR and SRAP analyses revealed a middle level of genetic diversity in L. macranthoides cultivars. The dendrograms based on SRAP and ISSR markers were not all the same.
CONCLUSIONThe genetic diversity of L. macranthoides cultivars is middle. ISSR and SRAP markers can be effectively applied to genetic analysis in L. macranthoides cultivars.
Genetic Variation ; Lonicera ; genetics ; Polymorphism, Genetic ; Software
2.Important role of single nucleotide polymorphisms in the study of complex diseases.
Journal of Central South University(Medical Sciences) 2014;39(9):969-974
Single nucleotide polymorphisms (SNPs) have been very widely used in the study of diseases and characters since the completion of the Human Genome Project. SNPs are mostly used as mere genetic markers in studying complex disease. Geneticists began to focus on the direct relationship between SNPs and complex diseases after the "Encyclopedia Of DNA Elements Project". SNPs can pay a regulative role alone, while the collected SNPs in genome can significantly affect the biological characters and disease development.
DNA
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Disease
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genetics
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Humans
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Polymorphism, Single Nucleotide
3.A genetic polymorphism in GCKR may be associated with low high-density lipoprotein cholesterol phenotype among Filipinos: A case-control study.
Rody G. Sy ; Jose B. Nevado, Jr. ; Eddieson M. Gonzales ; Adrian John P. Bejarin ; Aimee Yvonne Criselle L. Aman ; Elmer Jasper B. Llanes ; Jose Donato A. Magno ; Deborah Ignacia D. Ona ; Felix Eduardo R. Punzalan ; Paul Ferdinand M. Reganit ; Lourdes Ella G. Santos ; Richard Henry P. Tiongco II ; Jaime Alfonso M. Aherrera ; Lauro L. Abrahan IV ; Charlene F. Agustin ; Eva Maria C. Cutiongco - de la Paz
Acta Medica Philippina 2022;56(10):49-56
Background. Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.
Objective. To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.
Methods. An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.
Results. Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.
Conclusion. The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.
Cardiovascular Diseases ; Dyslipidemias ; Genetics ; Polymorphism, Single Nucleotide
4.Sequence polymorphism of mtDNA HV1, HV2 overlapping fragments and coding region 8430-8673nt in Han population of Hebei province.
Li-hong FU ; Yu-xia YAO ; Bin CONG ; Shu-jin LI
Chinese Journal of Medical Genetics 2004;21(5):518-521
OBJECTIVETo investigate the sequence polymorphism of mtDNA HV1,HV2 overlapping fragments and coding region encompassing position 8430-8673 in Hebei Han population.
METHODSPolymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with sequencing method was used to detect the haplotype distribution of mtDNA in 100 Hebei Han individuals.
RESULTSNinety-one haplotypes were noted in 100 unrelated individuals. The gene diversity is 0.9985 and the random match probability is 0.0115. Compared with the Anderson sequence, 65 sites of different nucleotide sequences were noted, of which 44 sites were previously registered in MITOMAP, 12 sites were not registered and the gene mutations were different from MITOMAP at 9 positions.
CONCLUSIONThe obtained data suggest that these loci are valuable genetic markers for personal identification and thus could be used as basic data for the forensic application of mtDNA in Hebei province.
China ; DNA, Mitochondrial ; genetics ; Humans ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational
7.Association of genetic polymorphisms of COMT gene with psychiatric disorders.
Li-bo GAO ; Shu-rong ZHONG ; Qiang JING
Chinese Journal of Medical Genetics 2010;27(6):650-653
The enzyme catechol-O-methyltransferase (COMT) transfers a methyl group from S-adenosylmethionine to the benzene ring of catecholamines including the neurotransmitters dopamine, epinephrine and norepinephrine. This methylation results in the degradation of catecholamines. The involvement of the COMT gene in the metabolic pathway of these neurotransmitters has made it an attractive candidate gene for many psychiatric disorders. This review focuses on the association between the genetic polymorphisms of COMT gene and psychiatric disorders.
Catechol O-Methyltransferase
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genetics
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Humans
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Mental Disorders
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genetics
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Polymorphism, Genetic
8.Progress in genetic study of aortic dissection.
Yong-sheng LI ; Wei-guo FU ; Zhi-hui DONG ; Li-xin WANG ; Yu-qi WANG
Chinese Journal of Medical Genetics 2013;30(4):435-438
Genetic study can provide important insight into the etiology of aortic dissection. To explore the pathogenesis and natural history of aortic dissection, a number of genes have been identified through microarray chip screening and undergone testing of polymorphisms to find mutations strongly associated with the disease. The results suggested aortic dissection to be a multi-gene disorder. Multiple genes probably work together to promote its development. Several diseases with a genetic predisposition are closely connected with aortic dissection, which also implied a role of genetic changes and malfunction in this disease.
Aneurysm, Dissecting
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genetics
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Aortic Aneurysm
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genetics
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Humans
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Mutation
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Polymorphism, Genetic
9.Single nucleotide polymorphisms of the genes related with spermatogenesis impairment.
National Journal of Andrology 2011;17(12):1125-1130
Male infertility is a complex disease affecting the reproduction of childbearing couples, for which genetic polymorphism of spermatogenesis genes is an important genetic pathogenic factor. Lots of genes closely related with spermatogenesis have been successfully identified through the gene knockout technology. Spermatogenesis impairment related genes include those associated with expression enzymes, receptors, cell apoptosis, transcription regulation, and so on. The genetic susceptibility of these genes, infection, and environment jointly contribute to non-obstructive azoospermia and oligozoospermia in males. The analysis of the single nucleotide polymorphism (SNP) of spermatogenesis impairment related genes helps explain the possible mechanism of pathogenesis at the molecular level, and provides theoretical evidence for the clinical diagnosis and treatment of male infertility. The article focuses on the correlation of the SNPs of spermatogenesis impairment related genes with azoospermia and oligozoospermia.
Humans
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Infertility, Male
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genetics
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Male
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Oligospermia
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genetics
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Polymorphism, Single Nucleotide
10.Vitamin D receptor gene polymorphism in patients with rickets.
Guang WANG ; Li-wei SUN ; Li-xin JIAO ; Qi CHEN ; Yu LIU ; Yu-qi LIU ; Cheng-xun WANG ; Yong-ping WANG ; Yong-fu LI
Chinese Journal of Pediatrics 2004;42(10):788-789