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Rev. bras. ginecol. obstet ; 40(10): 631-641, Oct. 2018. tab, graf
Article in English | LILACS | ID: biblio-977788


Abstract Objective Previous studies investigating the association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and recurrent pregnancy loss (RPL) risk has provided inconsistent results. The aim of our study was to assess the association between the ACE I/D polymorphism and risk of RPL. Methods All studies published up to January 30, 2018 on the association of ACE I/D polymorphism with RPL were identified by searching the PubMed, Web of Knowledge, and Google scholar databases. Results A total of 26 case-control studies with 3,140 RPL cases and 3,370 controls were included in themeta-analysis. Overall, there was a significant association between ACE I/D polymorphism and RPL risk under the allele model (I versus D: odds ratio [OR] = 0.538, 95% confidence interval [CI] = 0.451-0.643, p 0.001), the homozygote model (II versus DD: OR = 0.766, 95% CI = 0.598-0.981, p = 0.035) and the recessive model (II versus ID + DD: OR = 0.809, 95% CI = 0.658-0.994, p = 0.044). Subgroup analysis by ethnicity showed that there was a significant association between ACE I/D polymorphism and increased risk of RPL in Caucasian and West-Asian populations, but not in East-Asians. When stratified by number of recurrent miscarriages (RMs), a significant association between ACE I/D polymorphism and increased risk of RPL was detected in the group of studies with ≥ 2 RMs, but not in studies with ≥ 3 RMs. Conclusion Themeta-analysis suggests that ACE I/D polymorphism is associated with increased risk of RPL. The ACE I/D polymorphism may be a risk factor for RPL in Caucasian and West-Asian populations, but not in East-Asians.

Humans , Female , Pregnancy , Abortion, Habitual/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Single Nucleotide , Case-Control Studies , INDEL Mutation
Braz. j. microbiol ; 49(2): 429-442, Apr.-June 2018. tab, graf
Article in English | LILACS | ID: biblio-889226


Abstract Bacteria are important sources of cellulases with various industrial and biotechnological applications. In view of this, a non-hemolytic bacterial strain, tolerant to various environmental pollutants (heavy metals and organic solvents), showing high cellulolytic index (7.89) was isolated from cattle shed soil and identified as Bacillus sp. SV1 (99.27% pairwise similarity with Bacillus korlensis). Extracellular cellulases showed the presence of endoglucanase, total cellulase and β-glucosidase activities. Cellulase production was induced in presence of cellulose (3.3 times CMCase, 2.9 times FPase and 2.1 times β-glucosidase), and enhanced (115.1% CMCase) by low-cost corn steep solids. An in silico investigation of endoglucanase (EC protein sequences of three Bacillus spp. as query, revealed their similarities with members of nine bacterial phyla and to Eukaryota (represented by Arthropoda and Nematoda), and also highlighted of a convergent and divergent evolution from other enzymes of different substrate [(1,3)-linked beta-d-glucans, xylan and chitosan] specificities. Characteristic conserved signature indels were observed among members of Actinobacteria (7 aa insert) and Firmicutes (9 aa insert) that served as a potential tool in support of their relatedness in phylogenetic trees.

Animals , Cattle , Bacillus/enzymology , Cellulase/genetics , Cellulase/metabolism , Evolution, Molecular , Bacillus/growth & development , Bacillus/isolation & purification , Cellulose/metabolism , Computational Biology , Feces/microbiology , Gene Expression Regulation, Bacterial , Gene Expression Regulation, Enzymologic , INDEL Mutation , Sequence Analysis, DNA , Sequence Homology , Substrate Specificity , Zea mays/metabolism
Electron. j. biotechnol ; 31: 44-47, Jan. 2018. tab, graf
Article in English | LILACS | ID: biblio-1022247


Background: Strong artificial selection and/or natural bottle necks may limit genetic variation in domesticated species. Lupinus luteus, an orphan temperate crop, has suffered diversity reductions during its bitter/sweet alkaloid domestication history, limiting breeding efforts and making molecular marker development a difficult task. The main goal of this research was to generate new polymorphic insertion­deletion (InDel) markers to aid yellow lupin genetics and breeding. By combining genomic reduction libraries and next generation sequencing, several polymorphic InDel markers were developed for L. luteus L. Results: A total of 118 InDel in silico polymorphic markers were identified. Eighteen InDel primer sets were evaluated in a diverse L. luteus core collection, where amplified between 2­3 alleles per locus. Observed heterozygosity (HO; 0.0648 to 0.5564) and polymorphic information content (PIC; 0.06 to 0.48) estimations revealed a moderate level of genetic variation across L. luteus accessions. In addition, ten and nine InDel loci amplified successfully Lupinus hispanicus Boiss & Reut, and Lupinus mutabilis Sweet, respectively, two L. luteus close relatives. PCA analysis identified two L. luteus clusters, most likely explained by the domestication species history. Conclusion: The development of InDel markers will facilitate the study of genetic diversity across L. luteus populations, as well as among closely related species.

Genetic Variation , Genetic Markers , Lupinus/genetics , INDEL Mutation , High-Throughput Nucleotide Sequencing
Salud pública Méx ; 59(5): 540-547, Sep.-Oct. 2017. tab
Article in English | LILACS | ID: biblio-903806


Abstract: Objective: To evaluate if variants in the genes CYP1A1 (T3801C and A4889G), CYP1B1 (G119T), GSTM1 (indel) and GSTT1 (indel) are associated with breast cancer (BC) among Mexican women. Materials and methods: 952 incident cases with histologically confirmed BC were matched by age (± 5 years) and zone of residence with 998 healthy population controls. Genetic variants in genes CYP1A1, CYP1B1, GSTM1 and GSTT1were genotyped by allelic discrimination and multiplex PCR. In a subsample of women, 105 markers for ancestry were determined. Results: An increased BC risk, independent of other BC risk factors, was observed among carriers of CYP1B1 G119T genotype (T/T vs. G/G: OR=1.9; 95%CI 1.4-2.5). Conclusion: Our results support the existence of genetic susceptibility for BC conferred by CYP1B1 G119T variant among Mexican women.

Resumen: Objetivo: Evaluar si las variantes en los genes CYP1A1 (T3801C y A4889G), CYP1B1 (G119T), GSTM1 (indel) yGSTT1 (indel), se asocian con el cáncer de mama (CM) en mujeres mexicanas. Material y métodos: Se parearon por edad (± 5 años) y zona de residencia 952 casos incidentes de CM histológicamente confirmado con 998 controles sanos poblacionales. Se genotipificaron variantes en los genes CYP1A1, CYP1B1, GSTM1 y GSTT1 por discriminación alélica y PCR multiplex. En una submuestra de mujeres, se determinaron 105 marcadores de ancestría. Resultados: Se observó un aumento del riesgo de CM, independiente de otros factores de riesgo, entre las portadoras del genotipo CYP1B1 G119T (T/T vs. G/G: RM=1.9; 95%CI 1.4-2.5). Conclusiones: Nuestros resultados soportan la existencia de susceptibilidad genética para CM conferida por la variante CYP1B1 G119T en mujeres mexicanas.

Humans , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Breast Neoplasms/genetics , Cytochrome P-450 CYP1A1/genetics , Polymorphism, Single Nucleotide , INDEL Mutation , Cytochrome P-450 CYP1B1/genetics , Glutathione Transferase/genetics , Breast Neoplasms/epidemiology , Case-Control Studies , Risk , Africa/ethnology , Multiplex Polymerase Chain Reaction , Mexico/epidemiology
Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (2): 187-191
in English | IMEMR | ID: emr-188481


Background: Angiotensin I-converting enzyme [ACE] has two homologous catalytic domains, the N- and C-domains. Our previous study suggested that Alu insertion [I allele] in the intron 16 of ACE resulted in premature codon termination. The I allele has only one active site in the N-domain while the Alu deletion [D allele] still has two active sites of ACE. Therefore the effect of I/ D polymorphism of ACE on the enzyme's ability to catalyse bradykinin is still not widely known

Aims: This study aimed to examine the serum bradykinin level in hypertensive patients with I/D polymorphism of ACE, who were treated with ACE inhibitor

Subjects and methods: The serum bradykinin and I/D polymorphism have been detected in 64 hypertensive patients taking ACE inhibitor [lisinopril or captopril] for at least eight weeks with good medication adherence. The binding affinity of ACE with its receptor was calculated by molecular docking

Results: The findings show that genotype II is more frequent in the population the researchers observed [53.12%] compared to ID [23.44%] and DD [23.44%] variances. On the other hand, the bradykinin level is not affected by genotype of the ACE genes on the population. Bradykinin increases in patients with genotype II who are given captopril, but decreases in patients treated with lisinopril. Nevertheless, there is no statistically significant difference

Conclusion: This study suggests that the polymorphism might not significantly affect the serum bra-dykinin level in hypertensive patients taking ACE inhibitors

Humans , Female , Male , Adult , Middle Aged , Aged , Aged, 80 and over , Peptidyl-Dipeptidase A , Polymorphism, Genetic , Alu Elements , INDEL Mutation , Angiotensin-Converting Enzyme Inhibitors , Bradykinin , Angiotensins
Article in English | WPRIM | ID: wpr-7492


Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma. His brother's daughter also had pancreatic nodules, but had not undergone surgery. The lesion was treated by endoscopic submucosal dissection and diagnosed as a grade 1 NET. Another small NET was detected in the second duodenal portion, resected by endoscopic submucosal dissection, which was also diagnosed as a grade 1 NET. During evaluation, three nodules were detected in the pancreas, and no evidence of pituitary, parathyroid tumors, or metastasis was observed. After surgery, the pancreatic lesions were diagnosed as NETs, with the same immunohistochemical patterns as those of the stomach and duodenum. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13.

Adenoma , Duodenum , Endoscopy , Genetic Testing , Germ-Line Mutation , Humans , INDEL Mutation , Meningioma , Middle Aged , Multiple Endocrine Neoplasia Type 1 , Neoplasm Metastasis , Neuroendocrine Tumors , Nuclear Family , Pancreas , Pituitary Gland , Rare Diseases , Siblings , Stomach
Article in Chinese | WPRIM | ID: wpr-815183


OBJECTIVE@#To evaluate the association between D2 dopamine receptor gene -141C Ins/Del polymorphism and heroin dependence in Chinese Han population.@*METHODS@#Chinese and foreign databases were searched for relevant articles published from the establishment of database to March 2014. Case-control studies on D2 dopamine receptor gene -141C Ins/Del polymorphism with heroin dependence in Chinese Han population were gathered with Meta-analysis by Stata 12.0 software after data abstraction.@*RESULTS@#Seven case-control studies on association between D2 dopamine receptor gene -141C Ins/ Del polymorphism and heroin dependence were included, which covered 3 211 heroin dependence patients and 1 979 controls. Meta-analysis results showed that the pooled odds ratio (OR), the 95% confidence interval (CI) and P value after combining genotypes were as follows: Ins/Ins vs Del/Del: OR=0.51, 95% CI: 0.27-0.96, P=0.017; Ins/Ins vs Ins/Del+Del/Del: OR=0.82, 95% CI: 0.72-0.94, P=0.448; Ins/Ins+ Ins/Del vs Del/Del: OR=0.53, 95% CI: 0.28-0.98, P=0.019; Ins/Del vs Del/Del: OR=0.59, 95% CI: 0.32-1.07, P=0.045; Ins vs Del: OR=0.79, 95% CI: 0.71-0.89, P=0.101).@*CONCLUSION@#D2 dopamine receptor gene -141C Ins/Del polymorphism is associated with heroin dependence in Chinese Han population, and Chinese Han population with Ins allele gene deletion are at lower risk of heroin dependence.

Alleles , Asian Continental Ancestry Group , Genetics , Case-Control Studies , Genotype , Heroin Dependence , Genetics , Humans , INDEL Mutation , Polymorphism, Genetic , Receptors, Dopamine D2 , Genetics
Saudi Medical Journal. 2015; 36 (2): 176-180
in English | IMEMR | ID: emr-178073


To investigate the association between angiotensin-converting enzyme [ACE] insertion/deletion [I/D] polymorphism and rheumatic heart disease [RHD] in Saudi patients. A case-control study was conducted in Saudi RHD patients. Genomic DNA was isolated from 99 RHD patients attending the Pediatric Cardiology Clinic at the Maternity and Children Hospital, Al-Madinah, Saudi Arabia from March 2013 to June 2014, and from 145 age- and gender-matched controls. Patient clinical records were reviewed to report major and minor modified Jones' criteria for diagnosis. The diagnosis was confirmed by echocardiography. The ACE I/D polymorphism was identified by polymerase chain reaction. A significant difference in ACE D allele carriage [DD+ID] distribution between RHD cases and controls was identified [p=0.02, odds ratio = 3.6, 95% confidence interval: 1.2-10.8]. The D allele carriage was significantly associated with development of mitral valve lesions alone [p=0.03]. The ACE I/D polymorphism is associated with an increased risk of RHD in the Saudi population. Further studies are needed to confirm our findings and to understand the molecular mechanisms underlying this association

Humans , Male , Female , INDEL Mutation , Polymorphism, Genetic , Rheumatic Heart Disease , Case-Control Studies , Polymerase Chain Reaction
Article in Chinese | WPRIM | ID: wpr-239457


<p><b>OBJECTIVE</b>To analyze the genetic data of 30 insertion and deletion polymorphisms (InDel) loci included in an InvestigatorR DIPplex diagnostic kit, and to evaluate the forensic application in ethnic Tibetan population from China.</p><p><b>METHODS</b>By detecting 226 unrelated individuals with the Investigator(R) DIPplex kit, allelic frequencies and population genetics parameters of the 30 InDels were statistically analyzed and compared with available data derived from other populations from various regions.</p><p><b>RESULTS</b>After the Bonferroni correction at a 95% significance level (P=0.0017), no significant departures from the Hardy-Weinberg equilibrium were observed except for the HLD114 locus. Linkage disequilibrium test showed no significant allelic association between all 30 loci after the Bonferroni's correction. The average heterozygosity (Ho) of all loci was 0.4125, the mean discrimination power (DP) was 0.5618, the mean polymorphism information content (PIC) was 0.3280, and the combined discrimination power (TDP) was 0.999999999990. The combined power of exclusion of all loci was 0.987 849 91 in trio cases and 0.94977125 in duo cases. Genetic distance between Tibetan and Han from Beijing was minimum (0.0068) in the 5 populations, while genetic distance between Tibetan and Uygur was maximal (0.0215).</p><p><b>CONCLUSION</b>Multiplex detection has revealed that these 30 InDel loci have a moderate distribution of genetic polymorphism among ethnic Tibetan group residing in Tibet, China.</p>

Adult , Asian Continental Ancestry Group , Ethnology , Genetics , Female , Gene Frequency , Humans , INDEL Mutation , Linkage Disequilibrium , Male , Middle Aged , Polymorphism, Genetic , Tibet , Ethnology , Young Adult
Journal of Experimental Hematology ; (6): 1258-1264, 2015.
Article in Chinese | WPRIM | ID: wpr-274054


<p><b>OBJECTIVE</b>To explore the correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia (AL) (except M3) after first chemotherapy in Chinese Han population.</p><p><b>METHODS</b>Blood samples obtained from 76 fever patients with AL during neutropenia episodes were detected to analyse single nucleotide polymorphism (SNP) in the MBL ExonI 54 and NFκB1-94ins/del ATTG gene, and analyse the correlation between above-mentioned 2 polymorphisms and fever during neutropenia of AL patients after chemotherapy.</p><p><b>RESULTS</b>In 76 patients, no correlation were found between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy (P > 0.05). No significant relation were found in sex, age, underlying disease, disease status or degrees of neutropenia in febrile neutropenia between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism (P > 0.05). However, patients with MBL ExonI 54 mutation presented longer febrile duration with a median of 5 days compared to 3 days of patients with wildtype MBL ExonI 54 genotype (P < 0.05).</p><p><b>CONCLUSIONS</b>There is no clear correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy. However, the patients with MBL ExonI 54 mutation have been observed to present a longer febrile duration.</p>

Acute Disease , Exons , Fever , Genotype , Humans , INDEL Mutation , Leukemia , Drug Therapy , Genetics , Mannose-Binding Lectin , Genetics , NF-kappa B p50 Subunit , Genetics , Neutropenia , Polymorphism, Single Nucleotide
Article in English | WPRIM | ID: wpr-29325


We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CALR mutation status, and their clinical features and prognosis were compared. CALR mutations were detected in 15 (24.2%) patients, and the incidence increased to 50.0% in 30 JAK2 V617F mutation-negative cases. These included 11 patients with three known mutations (c.1092_1143del [seven cases], c.1154_1155insTTGTC [three cases], and c.1102_1135del [one case]) and 4 patients with novel mutations. ET patients carrying CALR mutation were younger, had lower white blood cell counts, and experienced less thrombosis during follow-up than those carrying JAK2 V617F mutation, while both patient groups showed similar clinical features and prognosis. In ET patients without JAK2 V617F mutation, CALR mutation did not significantly affect clinical manifestation and prognosis. In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. The prognostic impact of CALR mutations needs further investigation.

Adult , Aged , Calreticulin/genetics , DNA Mutational Analysis , Exons , Female , Genotype , Humans , INDEL Mutation , Janus Kinase 2/genetics , Male , Middle Aged , Primary Myelofibrosis/diagnosis , Prognosis , Republic of Korea , Tertiary Care Centers , Thrombocythemia, Essential/diagnosis , Young Adult
Indian J Hum Genet ; 2014 Apr-Jun ; 20 (2): 166-174
Article in English | IMSEAR | ID: sea-156655


BACKGROUND: Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region. AIMS AND OBJECTIVES: To map the functionally significant sites within human genes that are likely to influence human traits and diseases. MATERIALS AND METHODS: In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6.0 chip. InDel polymorphisms in these copy number polymorphism regions were identified with a computational approach using the 2500 deoxyribonucleic acid sequences obtained from the 1000 Genome Project. RESULTS: The study identified a total of 95935 inDels that range from 1 bp to several bps in length which were found scattered across regulatory regions, exons and in introns of genes underlying the CNVs. A study on the distribution of inDels revealed that the majority of inDels were found in coding regions of the genome than the noncoding, while within the genes, inDels in intron regions were more followed by exonic regions and finally the regulatory regions. CONCLUSION: Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs.

DNA Copy Number Variations/genetics , Genotype/genetics , Humans , INDEL Mutation/genetics , Polymorphism, Genetic/genetics , Population/genetics , Sequence Deletion/genetics , Tibet
IJRM-Iranian Journal of Reproductive Medicine. 2014; 12 (9): 641-646
in English | IMEMR | ID: emr-149666


Implantation failure of blastocyst is one of the main reasons of failure to become pregnancy following use of Assisted Reproductive Techniques. HLA-G, one of the non-classic HLA subtypes, seems to have a vital role in neutralizing of mother immune system. According to importance of ins/del polymorphism of HLA-G in regulation of HLA-G expression, it seems that this polymorphism has an important effect in immune response against embryo, and so success of embryo implantation. In this experiment we try to evaluate association of HLA-G ins/del polymorphism with risk of occurrence of RIF in ART treated infertile women. To evaluating insertion/deletion polymorphism association with RIF we design a case-control study. We select 40 women with history of recurrent failure to become pregnant following IVF as RIF case group. Forty women with pregnancy following IVF were selected as control. Members of both groups were assessed to rule out of anatomical, immunological and known genetical cause of infertility. Presence of 14 bp insertion/deletion alleles was assessed using PCR-PAGE technique. The data were analyzed by means of SPSS software using Chi-Square tests at the significant level of p<0.05. Our data shows that frequency of heterozygote genotype [ins/del] was significantly higher in case group. Furthermore presence of HLA-G insertion/deletion genotype shows association with increase of implantation failure risk by 3.85 fold. According our results, Heterozygote genotype of ins/del leads to increase of RIF risk. It seems that by genotyping of HLA-G polymorphism, we can predict risk of implantation failure in infertile women after use of ART

Humans , Female , INDEL Mutation , Polymorphism, Genetic , HLA-G Antigens , Reproductive Techniques, Assisted , Case-Control Studies , Recurrence
Article in Chinese | WPRIM | ID: wpr-814833


OBJECTIVE@#To investigate the association of the polymorphism of angiotensin-converting enzyme (ACE) gene and pregnancy-induced hypertension (PIH) in Chinese Women.@*METHODS@#We systematically searched CNKI, Wanfang database, VIP and PubMed from database construction to March 2012 to collect case-control studies. Stata 11.0 was used for meta analysis after evaluating the quality of studies and collecting the data. The association was assessed by odds ratio (OR) with 95% confidence intervals (CIs). Publication bias was analyzed by Begg's funnel plot and Egger's regression test.@*RESULTS@#We identified 11 case-control studies on association between ACE gene polymorphism and PIH, which included 806 PIH patients and 900 controls. Overall, significant association was found between ACE gene polymorphism and PIH risk [for D vs I: OR=2.73, 95% CI (1.64, 4.24), P<0.001; for DD+DI vs II: OR=3.11, 95% CI (1.98, 4.90), P<0.001; for DD vs II: OR=5.00, 95% CI (2.30,10.88), P<0.001; for DI vs II: OR=1.97, 95% CI(1.53, 2.53), P<0.001].@*CONCLUSION@#Chinese women with D allele gene deletion have a higher risk of suffering pregnancy induced hypertension syndrome.

Adult , Alleles , Female , Genetic Predisposition to Disease , Humans , Hypertension, Pregnancy-Induced , Genetics , INDEL Mutation , Peptidyl-Dipeptidase A , Genetics , Polymorphism, Genetic , Pregnancy , Randomized Controlled Trials as Topic , Risk Factors
Article in English | IMSEAR | ID: sea-137373


Background & objectives: Genetic variation in the DNA repair genes might be associated with altered DNA repair capacities (DRC). Reduced DRC due to inherited polymorphisms may increase the susceptibility to cancers. Base excision and nucleotide excision are the two major repair pathways. We investigated the association between two base excision repair (BER) genes (APE1 exon 5, OGG1 exon 7) and two nucleotide excision repair (NER) genes (XPC PAT, XPC exon 15) with risk of prostate cancer (PCa). Methods: The study was designed with 192 histopathologically confirmed PCa patients and 224 age matched healthy controls of similar ethnicity. Genotypes were determined by amplification refractory mutation specific (ARMS) and PCR-restriction fragment length polymorphism (RFLP) methods. Results: Overall, a significant association in NER gene, XPC PAT Ins/Ins (I/I) genotype with PCa risk was observed (Adjusted OR- 2.55, 95%CI-1.22-5.33, P=0.012). XPC exon 15 variant CC genotypes presented statistically significant risk of PCa (Adjusted OR- 2.15, 95% CI-1.09-4.23, P=0.026). However, no association was observed for polymorphism with BER genes. Diplotype analysis of XPC PAT and exon 15 revealed that the frequency of the D-C and I-A diplotype was statistically significant in PCa. The variant genotypes of NER genes were also associated with high Gleason grade. Interpretation & conclusions: The results indicated that there was a significant modifying effect on the association between genotype XPC PAT and exon 15 polymorphism and PCa risk which was further confirmed by diplotype analysis of XPC PAT and exon 15 in north Indian population.

Aged , DNA Glycosylases/genetics , DNA Repair/genetics , DNA-(Apurinic or Apyrimidinic Site) Lyase/genetics , DNA-Binding Proteins/genetics , Exons , Genetic Association Studies , Genetic Predisposition to Disease , Humans , INDEL Mutation , India , Introns , Middle Aged , Neoplasm Staging , Prostatic Neoplasms/genetics , Prostatic Neoplasms/pathology
Article in Chinese | WPRIM | ID: wpr-346839


<p><b>OBJECTIVE</b>To analyse the polymorphism of squalene synthase gene and reveal the influence of squalene synthase (SQS) gene polymorphism on the catalytic efficiency of its encode enzyme in Glycyrrhiza uralensi.</p><p><b>METHOD</b>The total RNA was extracted. PCR was used to amplify the coding sequences of squalene synthase gene, which were sequenced and analysed. The expression vectors containing different SQS gene sequences, including SQS1C, SQS1F, SQS2A, SQS2B, were constructed and transformed into Escherichia coli BL21. The fusion protein was induced to express by IPTG, then was isolated, purified and used to carry out the enzymatic reaction in vitro. GC-MS was used to analyse the production.</p><p><b>RESULT</b>There were three kinds of gene polymorphism existing in SQS1 gene of G. uralensis, including single nucleotide polymorphism (SNPs), insertion/deletion length polymorphism (InDels) and level of amino acid, the proportion of conservative replace of SQS1 was 53.94%, and there were 2 mutational sites in structural domains. The proportion of conservative replace of SQS2 was 60%, and there was 1 mutational site in structural domains. The production squalene could be detected by GC-MS in all the 4 kinds of enzymatic reactions. The capacity of accumulating squalene of SQS1F was higher than other SQS genes.</p><p><b>CONCLUSION</b>The polymorphism of SQS gene was quite abundant in G. uralensis, which maybe the molecular foundation of the formation of high-quality liquorice.</p>

Amino Acid Substitution , Biocatalysis , Cloning, Molecular , DNA, Complementary , Chemistry , Genetics , Electrophoresis, Polyacrylamide Gel , Escherichia coli , Genetics , Farnesyl-Diphosphate Farnesyltransferase , Genetics , Metabolism , Gas Chromatography-Mass Spectrometry , Glycyrrhiza uralensis , Genetics , INDEL Mutation , Isoenzymes , Genetics , Metabolism , Molecular Sequence Data , Plant Proteins , Genetics , Metabolism , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Recombinant Proteins , Metabolism , Sequence Analysis, DNA , Squalene , Metabolism
Article in English | WPRIM | ID: wpr-632981


Objective. Previous studies have demonstrated the role of genetic susceptibility in the pathogenesis of diabetic nephropathy. The study aimed to determine the frequencies of angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in a pilot population of Filipino type 2 diabetic patients and normal controls. Methods. An analysis of the ACE gene polymorphism was performed in 42 diabetic patients with and without nephropathy, and 24 normal controls. The analysis was done using polymerase chain reaction, restriction enzyme digestion, and gel electrophoresis techniques to determine the polymorphism (II, DD or ID). Independent T-tests and chi-square tests were used to compare clinical characteristics, and logistic regression analysis was done to determine odds ratio for development of nephropathy. Results. The ID polymorphism of the ACE gene was more frequent (52.4%) in patients with diabetic nephropathy (n=21). In those without nephropathy (n=21), II was more common (61.9%). ID was the more frequent genotype in the normal controls (n=24) (58.3%). The odds of developing diabetic nephropathy were increased by 4.8 times in those with ID polymorphism, and 2.9 times in those with DD. Conclusion. The D allele was more common in patients with diabetic nephropathy, similar to the observation in South Indian patients. Since the study involved only a small pilot group, studies on a larger population is needed to establish the hypothesized role of the D allele in susceptibility to diabetic nephropathy in Filipinos.

Humans , Alleles , Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Electrophoresis , Genetic Predisposition to Disease , Genotype , INDEL Mutation , Mutagenesis, Insertional , Peptidyl-Dipeptidase A
Electron. j. biotechnol ; 13(6): 7-8, Nov. 2010. ilus, tab
Article in English | LILACS | ID: lil-591911


In order to saturate a sunflower genetic map and facilitate marker-assisted selection (MAS) breeding for stress response, it is necessary to enhance map saturation with molecular markers localized in linkage groups associated to genomic regions involved in these traits. This work describes the identification and characterization of 1,134 simple sequence repeat (SSR) containing expressed sequence tags (EST) from unigenes available databases. Twelve of these functional markers as well as 41 public SSR markers were successfully localized in linkage groups, thus contributing to the saturation of specific regions on a reference genetic-linkage-map derived from recombinant inbred lines (RIL) mapping population from the cross between PAC2 x RHA266 lines. The enriched map includes 547 markers (231 SSR, 9 EST-SSR, 3 insertions/deletions (InDel) and 304 amplified fragment length polymorphisms (AFLP) distributed in 17 linkage groups (LG), spanning genetic size to 1,942.3 cM and improving its mean density to 3.6 cM per locus. As consequence, no gaps longer than 13.2 cM remain uncovered throughout the entire map, which increases the feasibility of detecting genes or traits of agronomic importance in sunflower.

Chromosome Mapping , Helianthus/genetics , DNA, Plant/genetics , Agronomy , Amplified Fragment Length Polymorphism Analysis , Breeding , Genetic Linkage , Genetic Markers , INDEL Mutation , Microsatellite Repeats , Polymerase Chain Reaction , Polymorphism, Genetic