OBJECTIVETo detect the relationship between heroin dependence and catechol-O-methyltransferase (COMT) gene.

METHODSGenotype and allele frequencies of 108 val/met and 900 Ins C/Del C polymorphisms of COMT gene were examined in 313 heroin-dependent subjects and 214 normal controls.

RESULTSNo differences in genotype and allele frequencies of 108 val/met polymorphism of COMT gene were observed between heroin-dependent subjects and normal controls (genotype-wise: chi-square=1.67, P=0.43; allele-wise: chi-square=1.23, P=0.27). No differences in genotype and allele frequencies of 900 Ins C/Del C polymorphism of COMT gene were observed between heroin-dependent subjects and normal controls (genotype-wise: chi-square=3.73, P=0.16; allele-wise: chi-square=0.76, P=0.38).

CONCLUSIONThe results suggested that neither 108 val/met polymorphism nor 900 Ins C/Del C polymorphism of COMT gene was associated with heroin dependence.

Adolescent ; Adult ; Catechol O-Methyltransferase ; genetics ; DNA ; genetics ; Female ; Gene Frequency ; Genotype ; Heroin Dependence ; enzymology ; genetics ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Polymorphism, Genetic ; Sequence Deletion

Animals ; Gene Amplification ; Genes, myc ; Humans ; Lymphoma, B-Cell ; genetics ; metabolism ; pathology ; Mutagenesis, Insertional ; Proto-Oncogene Proteins c-myc ; metabolism ; Translocation, Genetic

We identified two genes related to fungicide resistance in Fusarium fujikuroi through random mutagenesis. Targeted gene deletions showed that survival factor 1 deletion resulted in higher sensitivity to fungicides, while deletion of the gene encoding F-box/WD-repeat protein increased resistance, suggesting that the genes affect fungicide resistance in different ways.
Fusarium* ; Gene Deletion ; Mutagenesis

OBJECTIVETo finish the work of sequencing the full sequence of intron 51 of dystrophin gene and understand its characteristic of sequence.

METHODSThe whole intron 51 was sequenced by primer walking. The sequencing results were analyzed by repeat sequences, matrix attachment region (MAR) and topoisomerase II cleavage sites. The residue sequences, after removal of the repetitive sequences, were subjected to the analysis of CpG islands, promoter, open reading frame (ORF) and unidentified low copy repeat sequence.

RESULTSThe acquired intron 51 sequence was composed of 38725 bp. Repetitive sequences constituted 37.53% of total intron sequence. The overall G+C content of intron 51 was 36.34%. There are four potential MARs in intron 51. Three of them are clustered in the 12 kb region near exon 51. Numerous ORFs were found on both strands, but no homologues proteins were found in Genbank CDS transcriptional peptide, PDB, SwissProt, PIR and PRF databases.

CONCLUSIONThe expansion of intron 7 over the last 120 million years was mainly the result of L1 insertion into intron 7, and not all of repetitive sequences are associated with chromosomal rearrangement. No sequence of functional significance was found in intron 51. The results suggest that the cluster of MARs may be associated with the instability of intron 51.

Base Sequence ; CpG Islands ; genetics ; Databases, Nucleic Acid ; Dystrophin ; genetics ; Gene Deletion ; Genes ; Humans ; Introns ; genetics ; Long Interspersed Nucleotide Elements ; genetics ; Mutagenesis, Insertional ; Open Reading Frames ; Promoter Regions, Genetic ; Repetitive Sequences, Nucleic Acid ; genetics ; Sequence Analysis, DNA ; methods

Genome editing is a useful research tool essentially applicable to gene therapy in the field of biotechnology, pharmaceutics and medicine. Scientists have developed three types of programmable nucleases for genome editing, and these include: Zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat (CRISPR)-Cas (CRISPR-associated) system particularly derived from bacterial adaptive immune system. Programmable nucleaseses occur double strand breaks (DSBs) on target strand, and a repair mechanism of DSBs introduces either non-homologous end joining (NHEJ) or homology directed repair (HDR), where the pathway is determined by presence of donor DNA template. In this sense, we can generate gene insertion, gene correction, point mutagenesis and chromosomal translocations via endogenous repair mechanism. However, these nucleases exhibit several discrepancies in the aspects of their compositions, targetable sites, efficiency and other characteristics. Here, we discuss on various characteristics of three programmable nucleases and potential outcomes of DSBs. Acknowledging the distinctions among these programmable nucleases will help scientists to select appropriate tools in genome engineering.
Biotechnology ; Clustered Regularly Interspaced Short Palindromic Repeats ; Deoxyribonuclease I ; DNA ; Genetic Engineering ; Genetic Therapy ; Genome* ; Humans ; Immune System ; Mutagenesis ; Mutagenesis, Insertional ; Tissue Donors ; Translocation, Genetic

OBJECTIVETo detect the GJB2 gene mutation in patients with autosomal-recessive deafness, and analyze the relationship between clinical phenotype and gene mutation.

METHODSForty-two patients were examined clinically by pure tone audiometry, acoustic impedance and auditory brainstem response. The complete coding region of the GJB2 gene was amplified by polymerase chain reaction (PCR) and the PCR products were subjected to automatic DNA sequencing.

RESULTSTwo cases had homozygous mutation of 235delC. One of them had sensorineural hearing loss while the other had mixed hearing loss. Heterozygous mutation of 176del16bp was detected in a pair of twins who had mixed hearing loss. The 109G to A, 79G to A and 341A to G mutations were observed in both the patients and the controls.

CONCLUSIONHomozygous 235delC mutation is one of the pathogeni c mutations which could occur in patients with mixed hearing loss. The heterozygous 176del16bp mutation combined with environmental factor may cause hearing loss. The 109G to A, 79G to A and 341A to G variants were considered to be polymorphisms of the GJB2 gene.

Adult ; Connexin 26 ; Connexins ; genetics ; DNA, Mitochondrial ; Deafness ; genetics ; Female ; Gene Frequency ; Genetic Testing ; Hearing Loss ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Infant, Newborn ; Male ; Mutagenesis, Insertional ; Mutation ; Persons With Hearing Impairments ; Polymorphism, Genetic ; Sequence Deletion

OBJECTIVETo determine whether the muscle-specific glycogen-targeting regulatory subunit of the glucogen bound protein phosphatase 1 (PPP1R3) gene 5 bp deletion/insertion(D/I) within 3'-untranslated region ( 3'-UTR) polymorphism is associated with type 2 diabetes in Chinese Han population in Hefei region of Anhui province.

METHODSThe PPP1R3 gene 3'-UTR 5 bp D/I polymorphism was detected by polymerase chain reaction in 268 patients with type 2 diabetes and 106 normal controls.

RESULTS(1) The distributions of the frequency of three genotypes and two alleles of the PPP1R3 gene 5 bp D/I polymorphism showed no significant difference between the type 2 diabetic cases and the normal controls. (2) In both the cases and controls, there was no significant difference in age at onset, duration of disease, blood glucose, blood lipid profile, blood pressure, insulin sensitive index, body mass index, and waist hip ratio between the three genotypic groups(P 0.05). (3) The PPP1R3 gene 3'-UTR polymorphism in Chinese Han population in Hefei region of Anhui province was found to be similar to that in both Japanese population and Canadian population, and to be different from that in Piman Indians and the Caucasians in Sweden.

CONCLUSIONThe PPP1R3 gene 5 bp D/I within 3'-UTR polymorphism taking on genetic variation among the different races of mankind may not play a critical role in the development of type 2 diabetes mellitus in Chinese Hans of Hefei region in Anhui province.

3' Flanking Region ; genetics ; Aged ; Alleles ; Diabetes Mellitus, Type 2 ; enzymology ; genetics ; pathology ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Phosphoprotein Phosphatases ; genetics ; Polymorphism, Genetic ; Protein Phosphatase 1 ; Sequence Deletion

Long terminal repeat (LTR) retrotransposons are mobile DNA sequences that ubiquitously exist in eukaryotic genomes. They replicate themselves in the genome by copy-paste mechanism with RNA as medium. In higher plants, many active LTR retrotransposons have been applied to analyze molecular marker technology, genetic tagging, insertion mutation and gene function. Here, we systematically review the characteristics of plant active LTR retrotransposons, including their structures, copy numbers and distributions. We further analyzed the gag (group-specific antigen) and pol (polymerase) sequence features of different plants active LTR retrotransposons and the distribution patterns of the cis-acting elements in LTR regions. The results show that autonomous active LTR retrotransposons must contain LTR regions and code Gag, Pr, Int, Rt, Rh proteins. Both LTR regions are highly homologous with each other and contain many cis-regulatory elements; RVT and RNase_H1_RT domain are essential for Rt and Rh protein respectively. These results provide the basis for subsequent identification of plant active LTR retrotransposons and their functional analysis.
Genome, Plant ; Mutagenesis, Insertional ; Plants ; genetics ; Retroelements ; Terminal Repeat Sequences

With the progess in studying gene structure and function of foot and mouth disease virus (FMDV), FMDV can express exogenous genes in different sites. Through transforming and modifying FMDV can achieve different application purposes such as improving virus titer, introducing tag, improving immune responses, and reducing pathogenicity. From the perspective of FMDV receiving inserted exogenous gene, this paper mainly describes the latest relevant developments of FMDV's expression to exogenous gene.
Foot-and-Mouth Disease Virus ; genetics ; Genetic Engineering ; Mutagenesis, Insertional

OBJECTIVETo study the relationship between angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and left ventricular mass (LVM) in newborns admitted to the neonatal intensive care unit (NICU).

METHODSSeventy-two newborns admitted to the NICU were enrolled. ACE genotypes were determined by genomic DNA which was isolated from heel-prick blood. Disease status of the newborns was evaluated by the Neonatal Critical Score (draft) on postnatal day 1. LVM and LVM index (LVMI) were evaluated by echocardiography on postnatal days 1-3.

RESULTSDD genotype was identified in 11 cases, ID genotype in 31 cases, and II genotype in 30 cases. There were no significant differences in clinical characteristics, critical score and body measurements in newborns with different genotypes. The DD genotype group showed significantly lower LVMI than the group with ID+II genotypes (29±4 g/m2 vs 35±8 g/m2; P<0.05).

CONCLUSIONSACE gene polymorphism is associated with the LVMI in newborns admitted to the NICU. The LVMI of DD genotype carriers is significantly lower than that of ID+II genotypes carriers, which suggests that D allele may be associated with the growth and development of left ventricular.

Echocardiography ; Female ; Gene Deletion ; Genotype ; Heart Ventricles ; diagnostic imaging ; Humans ; Intensive Care Units, Neonatal ; Male ; Mutagenesis, Insertional ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic