Haplotypes ; Humans ; Neoplasms ; genetics ; Polymorphism, Single Nucleotide ; genetics

Caspases ; genetics ; Genetic Predisposition to Disease ; Humans ; Neoplasms ; genetics ; Polymorphism, Genetic

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 ; genetics ; Humans ; Mental Disorders ; genetics ; Polymorphism, Genetic

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 ; genetics ; Aortic Aneurysm ; genetics ; Humans ; Mutation ; Polymorphism, Genetic

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 ; Infertility, Male ; genetics ; Male ; Oligospermia ; genetics ; Polymorphism, Single Nucleotide

Humans ; Polymorphism, Genetic ; Receptors, Calcitriol ; genetics ; Rickets ; genetics

OBJECTIVETo evaluate relationship between ApoE gene polymorphism and coronary heart disease (CHD).

METHODSMeta-analysis was applied with a random-effect model for the collected data.

RESULTSDifference in pooled frequencies, d, of apoE genotypes E3/2, E4/2, E3/3, E4/3 and E4/4 between case and control groups were 2.3%, -0.8%, -8.5%, 10.5% and 0.9%, respectively. Difference in pooled frequencies, d, of apoE alleles epsilon2, epsilon3 and epsilon4 were -1.5%, -4.2% and 5.8%, respectively, with a statistical significance between four groups.

CONCLUSIONSapoE gene polymorphism was involved in coronary heart disease. Persons with apoE E3/3 genotype or epsilon3 allele were not susceptible to CHD, but those with apoE E4/4 genotype or epsilon4 allele had higher risk suffering from CHD than others.

Polymorphism, Genetic ; Gene Frequency ; China ; Genetics, Population ; Microsatellite Repeats/genetics*

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.

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 ; Disease ; genetics ; Humans ; Polymorphism, Single Nucleotide