Mitochondria in cancer have genetic instability like genetic mutations or polymorphisms, and D-loop is hot spot region and is suggested its association with cancer prognosis. Genetic variations of D-loop were associated with mitochondrial copy number. In present study, mitochondrial polymorphism in D-loop (D310 and D514) was studied in 108 DNAs from health individuals and its association with mitochondrial copy number was also investigated. In D310 polymorphism, C7 was most common (37.7%, 40/108), and C8 and C9 was found in 32.1% and 30.2%, respectively. In D514 polymorphism, (CA)5 and (CA)4 was shown in 61.4% and 38.6%, respectively. Mitochondrial copy number was increased in 40.7% while it was decreased in 59.3%. There was no association between mitochondrial polymorphism and copy number. Follow-up study should be needed to confirm its change in same individuals.
DNA ; Genetic Variation ; Mitochondria ; Prognosis

Genetic and/or environmental factors lead to large inter-individual variability in the efficacy and the side effects of drugs. Pharmacogenetics is the study of genetically determined differences in drug response. It focuses on the genetic variations involved in drug metabolism, transporters and receptors, which result in the pharmacokinetic and pharmacodynamic differences. Recently, pharmacogenetic studies on anesthetics and analgesics have been carried out actively. The pharmacogenetics of the commonly used drugs in anesthetic practice is reviewed.
Analgesics ; Anesthetics ; Genetic Variation ; Pharmacogenetics

Genetic diversity of 21 Korean Phytophthora capsici isolates was analyzed by using several molecular markers such as random amplified polymorphic DNA(RAPD), M-13, microsatellite and random amplified microsatellite sequences(RAMS). The overall average similarity coefficient among the isolates was 86% based on the combined data obtained by the molecular markers. No molecular markers were found to be associated with hosts or geographic regions. In addition to RAPD, analysis based on repeated sequences such as (GTG)5, M-13 and RAMS could be used to assess population structure of P. capsici.
Genetic Variation* ; Microsatellite Repeats ; Phytophthora*

The molecular phylogeny in nine different commercial cultivated strains of Pleurotus nebrodensis was studied based on their internal transcribed spacer (ITS) region and RAPD. In the sequence of ITS region of selected strains, it was revealed that the total length ranged from 592 to 614 bp. The size of ITS1 and ITS2 regions varied among the strains from 219 to 228 bp and 211 to 229 bp, respectively. The sequence of ITS2 was more variable than ITS1 and the region of 5.8S sequences were identical. Phylogenetic tree of the ITS region sequences indicated that selected strains were classified into five clusters. The reciprocal homologies of the ITS region sequences ranged from 99 to 100%. The strains were also analyzed by RAPD with 20 arbitrary primers. Twelve primers were efficient to applying amplification of the genomic DNA. The sizes of the polymorphic fragments obtained were in the range of 200 to 2000 bp. RAPD and ITS analysis techniques were able to detect genetic variation among the tested strains. Experimental results suggested that IUM-1381, IUM-3914, IUM-1495 and AY-581431 strains were genetically very similar. Therefore, all IUM and NCBI gene bank strains of P. nebrodensis were genetically same with some variations.
DNA ; Genetic Variation ; Phylogeny ; Pleurotus

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.

OBJECTIVEStudies on DNA fingerprinting of eight species of Paris and application of restriction site amplification polymorphism (RSAP) to the identification of Paris.

METHODSequence-related amplified polymorphism (SRAP) molecular markers were used to detect the genetic diversity of 7 accessions of Paris collected from Tianquan and Baoxing in Sichuan, and one from Lijiang in Yunnan.

RESULTThe DNA fingerprinting of 8 species were generated by 18 primer combination screened from 45 primer combinations. Eight accessions were clustered into 4 groups by genetic distance.

CONCLUSIONBased on molecular biology methods of RSAP analysis, accurate molecular identification could be performed on traditional Chinese medicinal material plants in Paris, and provided molecular evidence for taxonomy and identification of different species in Paris.

Stature and four cephalometric measurements (head lengh, head breadth, bizygomatic diameter, bigonial diameter) were examined from samples of 461 Uygur in Xinjiang, China. Comparisons of head and facial morphology with geographically adjacent tribes were carried out to characterize Uygur population and to understand racial hybridity. Most of Uygur were hyperbrachycephalic as expressed by cephalic index and had larger lateral facial and smaller antero-posterior dimensions than Western Caucasians. The values of metric traits showed differences between East and West among Uygur populations. The results support the genetic diversity that seems to be caused by genetic hybridity and unequal growth between East and West in Uygur.
China* ; Genetic Variation ; Head* ; Humans ; Population Groups

There is growing interest in the genetic analysis of schizophrenia using endophenotypes rather than clinical diagnosis or symptom dimensions. Endophenotypes could be alternative phenotypes for the clinical phenotypes. With their intermedicate and quantitative characteristics, endophenotypes could be functionally important links in the pathways between the genetic variation and clinical expression of the disorder. In this regard, the neurophysiological and neurocognitive endophenotypes used in the genetic analysis of schizophrenia have been reviewed.
Diagnosis ; Endophenotypes* ; Genetic Variation ; Genetics* ; Phenotype ; Schizophrenia*

Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields. Unfortunately, identifying an exome sequencing depth adequate for clinical use is a challenge that has not been addressed extensively. Here, we investigate the effect of exome sequencing depth on the discovery of sequence variants for clinical use. Toward this, we sequenced ten germ-line blood samples from breast cancer patients on the Illumina platform GAII(x) at a high depth of ~200x. We observed that most function-related diverse variants in the human exonic regions could be detected at a sequencing depth of 120x. Furthermore, investigation using a diagnostic gene set showed that the number of clinical variants identified using exome sequencing reached a plateau at an average sequencing depth of about 120x. Moreover, the phenomena were consistent across the breast cancer samples.
Breast Neoplasms ; Exome* ; Exons ; Genetic Variation ; Humans

The HUMACTBP2 locus was investigated to collect population genetic data in the Korean population and to evaluate the applicability for the forensic field. An Automatic fluorescent-based sequencer (377 automatic DNA sequencer, ABI) was used to detect amplified fragments of the HUMACTBP2 locus electrophoresed on 4% denaturing polyacrylamide sequencing gels. ACTBP2 allelic ladder consisting of different sizes of 18 alleles was constructed and employed as an internal size standard in combination with a GS-350 size standard for precision of allele-band sizing. By utilizing different fluorescent dyes, both the allelic ladders and samples were able to be analyzed in the same lane by 99% orecision of allele-band sizing. Among the Korean population (n=224), 26 alleles in the range of 239-313 bp are determined. allele No. 6 is found 45 times (0.100) which is mostly frequent, and the rest of allele is distributed with their relative frequency of 0.002-0.100. The comparison between observed and expected numbers of homozygous and heterozygous individuals confirms that ACTBP2 locus is in the state of Hardy-Weinberg equilibrium among the Korean population. The heterozygosity is 0.9389+/-0.0034(93.89%), and the power of discrimination(PD) and power of exclusion(PEX) are calculated to be 0.991(99.1%)and 0.890(89.0%), respectively, showing the high informativeness for individual identification. Thus, these results mean that the HUMACTBP2 locus can effectively be used for the forensic application.
Alleles ; DNA ; Fluorescent Dyes ; Gels ; Genetic Variation*