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Objective:To evaluate the relationship between inflammatory bowel disease (IBD) and diabetes mellitus.Methods:The database of PubMed, EMBASE and Cochrane were searched by computer, and the related studies on the relationship between IBD and diabetes were collected. The retrieval time was from the database establishment to November 2, 2019. The heterogeneity analysis was conducted by Cochran Q test and I2 value. The relative risk ( RR) and 95% confidence interval ( CI) were used as the research indexes to conduct Meta analysis. Sensitivity analysis and publication bias test were also carried out. Results:Twelve observational studies were included in the study, and 216 024 IBD patients were included. Meta analysis showed that there was a significant correlation between IBD and diabetes ( RR = 1.27, 95% CI 1.09 - 1.49), and the risk of diabetes in IBD patients was 1.27 times higher than that of the general population. The results of subgroup analysis showed that: compared with the general population, the risk of type 2 diabetes mellitus (T2DM) in patients with ulcerative colitis (UC) increased ( RR = 1.44, 95% CI 1.25 -1.66), while the risk of type 1 diabetes mellitus (T1DM) had no significant difference. Compared with the general population, the risk of T1DM and T2DM in patients with Crohn′s disease (CD) both increased (T1DM: RR = 1.34, 95% CI 1.05 - 1.71; T2DM: RR = 1.44, 95% CI 1.01 - 2.07). Conclusions:There is a relationship between IBD and diabetes mellitus, and the risk of diabetes is increased in IBD patients.
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[Objective] To propose a criterion for making conclusions on paternity tests based on STR genotyping. [Method] To use binomial distribution formula to calculate minimal numbers of STR loci that must be tested for different scenarios in paternity testing. [ Results ] We proposed a set of criteria for making STR paternity testing conclusions. For triplet tests, concluded "paternity positive" for the following four cases when the cumulative paternity index (PI) was greater than 10 000: 1) no inconsistent STR locus was detected in 15 loci (PE > 0.571 4/locus) or 2) only one inconsistent STR locus was detected in 19 loci or 3) only two inconsistent STR loci were detected in 28 loci or 4) only three inconsistent STR loci were detected in 35 loci; otherwise, concluded "paternity negative" when at least four inconsistent STR loci had been detected. For single parent tests, concluded "paternity non-exclusive" for the following cases when the cumulative PI was greater than 10 000: 1) no inconsistent STR locus was detected in 18 loci (PE>0.411/locus) or 2) only one inconsistent STR locus was detected in 29 loci or 3) two inconsistent STR loci were detected in 41 loci; concluded "paternity negative" when three or more inconsistent loci were detected. [Conclusion] Our experience has proven that these criteria are robust in STR paternity testing.
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[Objective] To screen and identify the new Y-STR loci from the Y chromosome and examine the polymorphism of these Y-STR loci. [Method] To seek and locate the position of 5 Y-STR loci, including DYS709, DYS720, DYS721, DYS722, and DYS723, and perform sequencing of these 5 Y-STR loci. Then to investigate the polymorphism in unrelated Chinese Han males. [Results] Five Y-STR loci were identified from Y chromosome sequence. By scrutinizing the physical position on Y chromosome of previously reported Y-STRs, we found that three loci were novel and two loci overlapped with two loci published only online. All loci could be male-specifically amplified with a product size ranging from 185 bp to 278 bp. After 108 males of the Chinese Han Population (Guangzhou) were examined, we found 5 DYS709, 11 DYS720 alleles, 4 DYS721 alleles, 6 DYS722 alleles, and 6 DYS723 alleles. A total of 95 haplotypes were identified, 84 of which were unique, and with a haplotype diversity of 0.997 2±0.001 2(HD±SE). [Conclusion] This set of Y-STRs can be used as Y chromosome genetic makers in related fields.
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[Objective] To analyze the phenomena and characteristics of the mutations in 24 short tandem repeat (STR) loci. [Methods] A total of 5 084 parentage confirmed cases were analyzed. The mutation events were screened. The sources of mutant alleles were ascertained. The mutation rates of STR loci were calculated. The rule and feature of mutation were analyzed. [Results] A total of 172 mutation events were observed in 24 STR loci. The mutation rate was between 0-0.492%. The number of mutation loci was between 1 and 3 for 1 case. The mutation model was accordant with stepwise mutation model. The maximum mutation step was four. In addition, the ratio of paternal versus maternal mutation was 3.55:1. [Conclusion] STR mutation events were common in paternity testing. The information of mutated STR loci should be considered and included when calculating PI value.
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[Objective] To investigate the genetic polymorphism of nine short tandem repeat (STR) loci in Han population of Southern China.[Methods] The 9 STR loci (D11S2368,D12S391,D13S325,D18S1364,D22-GATA198B05,D6S1043,D2S1772,D7S3048,D8S1132) were amplified with STR＿Typer＿10＿v1 kit for 1619 unrelated individuals of Han population in Southern China.The PCR products were analyzed with 3100 genetic analyzer and GeneMapper ID 3.1v software.The forensic efficiency parameters were calculated by PowerState V12.xls and the Hardy-Weinberg equilibrium was tested with Arlequin 3.11v software.[Results] The genetic polymorphism of 9 STR loci in Han population of Southern China was quite high.The heterozygosities (H) ranged from 0.818 to 0.879.The match probabilities (MP) ranged from 0.031 to 0.063.The powers of discrimination (PD) ranged from 0.937 to 0.970,the probabilities of exclusion (PE) ranged from 0.632 to 0.753,the polymorphism information contents (PIC) ranged from 0.80 to 0.88 and the typical paternity indices (TPI) ranged from 2.74-4.13,respectively.These data were in accord with Hardy-Weinberg equilibrium (P ＞ 0.05).[Conclusion] Nine STR loci are highly polymorphic in Chinese Han population.They are new useful tools for paternity testing,individual identification,and for the research of human genetics and anthropology.
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[Objective] To learn about the genetic diversity,we studied the five X-chromosomal STR (X-STR) loci in Guangdong Han Nationality Groups.[Methods] The five Loci (DXS6803,DXS981,DXS6809,DXS6789,and DXS7132) were amplified in a pentaplex PCR reaction.PCR products were analyzed using capillary electrophoresis and ABI prism 3100 Genetic Analyzer,with GeneMapper ID 3.1 Analysis Software.[Results] A total of 363 individuals (181 unrelated male and 182 unrelated female) from Guangdong Han population were tested,54 alleles were observed for these loci.Polymorphism information content is 0.6935 ～ 0.8177.Power of discrimination in females was 0.8976 ～ 0.9562.Mean exclusion chance for X-STR in standard trios with daughters was 0.7805 ～ 0.8467.[Conclusion] The five loci in the multiplex system provide high polymorphism information for forensic identification and paternity testing,particularly for difficult paternity deficiency cases.
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<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.</p><p><b>METHODS</b>A genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.</p><p><b>RESULTS</b>Multipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.</p><p><b>CONCLUSION</b>These results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , China , Chromosome Mapping , Chromosomes, Human, Pair 1 , Genetics , Family Health , Genetic Linkage , Genetic Predisposition to Disease , Genetics , Lod Score , Microsatellite Repeats , Models, Genetic , Pedigree , Schizophrenia , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia.</p><p><b>METHODS</b>A series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1.</p><p><b>RESULTS</b>Haseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis.</p><p><b>CONCLUSION</b>The results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.</p>
Subject(s)
Humans , Chromosomes, Human, Pair 1 , Genetics , Family Health , Genetic Linkage , Lod Score , Microsatellite Repeats , Quantitative Trait, Heritable , Schizophrenia , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To understand the mutational patterns and mechanism of short tandem repeats(STRs).</p><p><b>METHODS</b>The DNA samples of 19 parent-child pairs with mutations in three loci (FGA, D12S391, and D11S554) were genotyped by silver staining on STR. Alleles to be sequenced were excised from gels, reamplified by PCR, and purified. Sequencing was performed by use of cycle sequencing.</p><p><b>RESULTS</b>There were 18 out of 19 pedigrees in which the 'new' alleles gained or lost a single repeat (8 gains, 7 losses, and 3 being indistinguishable). Only one pedigree lost two repeats. In the 19 pedigrees, there were 13 pedigrees whose 'new' alleles came from fathers, 3 from mothers, 3 from either father or mother. The ratio was 4 1 between fathers and mothers. The mutation of three STR loci occurred in the long, uninterrupted tetranucleotide repeat regions ('CTTT' in FGA, 'AGAT' in D12S391, and 'AAAG' in D11S554).</p><p><b>CONCLUSION</b>Single- step mutations accounted for 95% of STR mutation events in these three loci: FGA, D12S391, and D11S554. The rest were double step mutations. There was no insertion or deletion of an incomplete repeat in any of the pedigrees. The mutation was mainly caused by fathers. The long, uninterrupted tetranucleotide repeats in these three loci might be susceptible to mutation.</p>
Subject(s)
Female , Humans , Male , Alleles , Base Sequence , DNA , Chemistry , Genetics , DNA Mutational Analysis , Gene Frequency , Genotype , Microsatellite Repeats , Genetics , Mutation , Nuclear Family , Tandem Repeat Sequences , GeneticsABSTRACT
【Objective】To explore the optimal conditions in fingerprinting (APHDF).【Methods】The human DNA fingerprints were detected by APHDF.A pair of short primers was used for amplification.The experimental conditions including template,Mg2+,deoxyribonucleotides,and parameters of cycle,were optimized.【Results】The template DNA should be abstracted freshly and the concentration should be ranged from 50～550 mg/L.The best concentration of Mg2+was 5.0 mmol/L.The deoxyribonucleotides concentration was optimal at 0.2 mmol/L.The PCR cycling parameters were as follows :The denaturing temperatures,annealing temperatures and extension temperatures were 94 ℃ and 90 ℃ for 30 s,43 ℃ and 48 ℃ for 40 s or 50 s,and 72 ℃ for 1 min or 80 s,respectively.【Conclusion】The optimal conditions of the experiment are obtained,with good reproducibility and high specificity.Therefore,this method can be widely applied in practice.
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To establish a calculation method of paternity probability in cases of absence of mother. Calculating the accumulated non-father exclusion probability of multiple polymorphic DNA loci was performed. The results showed that in cases of inheritance with Mendelian Law, through testing 8 or more polymorphic DNA loci, the paternity probability may reach 0. 9990 or more. In cases of paternity exclusion, exclusion 3 or more than 3 loci were required. For the purpose of identifying paternity in cases of absence of mother, more than 8 polymorphic DNA loci must be tested. The paternity probability must be more than 0. 9990 in cases of paternity inclusion and in cases of paternity exclusion, 3 or more loci of exclusion is needed.
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To evaluate species specificity of 20 STRs loci used in our lab. Human DNA and 10 different kinds of common animals' DNA were amplified separately. The PCR products were analysed with PAGE. There are amplified products in DYS388, DYS389, DYS390, D7S809, D13S631 loci of human 'DNA, but not of 10 different kinds of animal DNA tested. There were amplified products in TH01, vWA, AR, CD4, FABP loci for human and animals' DNA, but the lengths of amplified fragment were distinctly different between human and animals. There were products of FES, D12S391, CSF1PO, D19S253, D21S11, FGA, DYS19 loci for human and animals DNA, but the product lengths were not different between human and animals. There were PCR products in SE33 and D11S554 loci for human and animals, their amplified fragment lengths were within the same electrophoretic field. 10 STR loci, such as TH01 etc, were highly specific for human being and the amplified fragments lengths of 8 STR loci, such as FES etc, were different between human and animal tested.
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Objective: To investigate the apoptotic effects and its mechanisms on K562 cells caused by Interferon-alpha (INF-?) and Cytarabine (Ara-C). Methods: The variation of both morphology and inhibitory rate of K562 cells was observed in culture medium with IFN-? and various concentrations of Ara-C at different time in vitro. The variation of telomerase activity and P53 protein expression were detected before and after apoptosis occurred. Results: INF-? and Ara-C used concurrently could cause apoptosis and inhibit the growth of K562 cells as well as decrease the telomerase activity and increase P53 protein expression significantly. All these processes showed both in time- and dose-dependent manner. Conclusions: INF-? and Ara-C used concurrently can inhibit the growth of K562 cells and induce apoptosis, inhibiting the telomerase activity and increasing the expression of P53 protein may be one of the most important mechanisms.
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Objective: To explore the mechanism of orindonin induced apoptosis on NB4 (Human acute promylocytic leukeamia cell line) cells. Methods: The variation of both morphology and inhibitory rate of NB4 cells were observed in culture medium with various concentrations of orindonin at different time in vitro. The activity of Caspase3 was detected before and after apoptosis occurred. Results: orindonin could increase the activity of Caspase3, inhibit the growth and cause apoptosis on NB4 cells significantly. The variations were both in time and dose dependent manner. Conclusion: Orindonin can inhibit the growth of NB4 cells and induce apoptosis. Increasing the activity of Caspase3 may be one of the most important mechanism.
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Objective To define the correlation between nasopharyngeal carcinoma (NPC) cell radiosensitivity and gene mutation in the ATM/PI3K coding region. Methods The gene mutation in the ATM/PI3K region of nasopharyngeal carcinoma cell lines which vary in radiosensitivity,was monitored by reverse transcription polymerase chain reaction (RT PCR) and fluorescence marked ddNTP cycle sequencing technique.Results No gene mutation was detected in the ATM/PI3K region of either CNE1 or CNE2.Conclusion Disparity in intrinsic radiosensitivity between different NPC cell lines depends on some other factors and mechanism without being related to ATM/PI3K mutations.
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Objective To evaluate the power of the PowerPlex?6 system for paternity testing. Method 633 cases of paternity testing were studied. After the megaplex STR amplification, the PCR products were genotyped by using the ABI377 DNA Sequencer. Results Among the 879 unrelated individuals, 197 alleles and 739 different genotypes were observed. The cumulated discriminating power was 1x 10-30. And the cumulative chance of exclusion was 0.999999999999987. 95 out of 633 cases were excluded. The RCP of all unexcluded cases were ≥0.9990. Gene mutations were found in 19 cases. Conclusion The Po-werPlex?16 system is powerful and reliable for paternity testing.
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A new method to revel RFLPs is presented. The human genomic DNAwas purified by saturatedNaCl solution and the pAW101 probe labelled with digoxigenin-dUTP. The relationships of RFLPsand genetic patterns of PGM1 (phosphoglucomutase),EsD (esterase D),GLO1 (glyoxalase)and ACP(acid phosphatase ) between the fillal generation and parental generation were detected in 15 families(among them 11 cases were aborted fetuses). The probability of paternity (w)was caculated accor-ding to Essen - Moller's formula, each w vlua was over 99. 73 %, reached the standard of incladingpaternity. An effective,rapid, and non-toxic RFLPs technique was established, which is easy to man-age in common lab oratories.
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Objective To evaluate the cause which leads to the allelic dropouts at D8S1179 locus while performing paternity testing with the AmpFlSTR Profiler Plus kit. Methods A singleplex amplification system for D8S1179 locus (GenBank Accession No. G08710) was used to verify the typing results by using the AmpFlSTR?Profiler plus kit. Dropout alleles were then sequenced. Results G to A transition was identified at the position of the 147th base of the GenBank sequence. The frequency of the G to A transition among the Chinese population was 0.50 X 10"2 (10 out of 2013 unrelated individuals). Conclusion The G to A transition may be located at the binding site of one of the primers of the AmpFlSTR?Profiler Plus kit. It is suggested that the G to A transition might be the cause of the allelic dropout at the D8S1179 locus.
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The phenotype distribution of human red cell glyoxalase I of a Han population in Guangzhou area was studied using mixed starch/agarose gel electrophoresis. The phenotype frequencies were: GLOI 1-1 2.57％; GLOI 2-1 29.17％; and GLOI 2-2 68.26％. The gene frequencies were: GLOI~1 0.1716; GLOI~2 0,8284. The phenotyping of GLOI was carried out satisfactorily in 35 bloodstains kept in room temperature for 20 days in 7 bloodstains stored in 4℃ for 105 days exposed in sunshine for 8 hours, as well as kept outdoor overnight, and in 10 putrefactive bloodstains kept in room temperature for 9 days.The GLOI were destroyed in 6 of 7 bloodstains washed by runing water for 2 hours.
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Since the HLA system is one of the most complex human genetic polym- orphisms,its application in forensic medicine included disputed paternity and criminal identification,have been fairly recognized. The present paper reported the results of our study about the HLA typing in human blood stain,serum and saliva,it was concluded that:(1).The existed strong anti-complementary activity in human blood stain when the amount of complement used in microlym-phocytotoxicity inhibition test(MLIT) was incresed to 10?l,it was found that the results of HLA-All,-B 5 typing in bloodstains were all correct,and the detectable period was at least 90 days; (2).The soluble HLA-A antigens in human serum could reliable detected with MLIT;(3).The soluble HLA-A antigens were also present in the human siliva.