1.Analysis of rare alleles of D13S325 falling in the range of adjacent locus.
Wenjing CHEN ; Shan PENG ; Ying WANG ; Dayue TONG ; Yong CHEN ; Weihong CHEN ; Hongyu SUN
Chinese Journal of Medical Genetics 2014;31(2):247-249
OBJECTIVETo analyze the rare alleles of D13S325 locus which fell in the size range of D12S391 locus with the STRtyper-10G kit.
METHODSGenotyping results of cases with suspected rare alleles of D13S325 were verified with Sinofiler(TM) kit and a singleplex amplification system. The rare alleles were separated and sequenced.
RESULTSFive families were detected with rare alleles of the D13S325 locus, which were misread as allele 20 of D12S391 locus. The alleles were named as 5.1 based on DNA sequences and have a frequency of 0.156 × 10(-2).
CONCLUSIONAs the rare allele 5.1 of D13S325 locus with the STRtyper-10G kit is prone to be mistyped, attention should be paid in the paternity testing, personal identification and DNA database search.
Alleles ; Humans ; Paternity ; Tandem Repeat Sequences
2.Genetic polymorphisms of short tandem repeat loci D3S1358, D13S317, D5S818 from Nongqu Mongolia.
Shu-ping LIU ; Xiu-lan SU ; Li-fu BI ; Cai-ping LI ; Lin QIU ; Feng-qi WANG
Chinese Journal of Medical Genetics 2004;21(3):297-298
OBJECTIVETo understand the allele structure and genetic polymorphism at D3S1358, D13S317, D5S818 short tandem repeats (STRs) loci in Nongqu Mongolian of China, and to construct a preliminary database.
METHODSThe allele frequencies of the three STRs loci in 291 unrelated individuals from Nongqu Mongolian were analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis.
RESULTSSix, ten, and eight alleles were observed at D3S1358, D13S317, D5S818, respectively, and all 3 loci met Hardy-Weinberg equilibrium. The statistical analysis of 3 STR loci showed the heterozygosity >or=0.7332, the polymorphic information content >or=0.6884; the combined discrimination power and the probabilities of paternity exclusion were 0.9991 and 0.9806 respectively.
CONCLUSIONAll three of the loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Mongolian genetic database and play an important role in Chinese population genetic application.
Chromosome Mapping ; Humans ; Mongolia ; ethnology ; Polymorphism, Genetic ; Tandem Repeat Sequences
3.Genetic polymorphism of short tandem repeat loci D1S549, D3S1754 and D12S375 in Qingdao Han population.
Qi-wei QI ; Hong-yan ZHANG ; Shou-zhong MA ; Li XU
Chinese Journal of Medical Genetics 2004;21(2):184-186
OBJECTIVETo know the genotype and allele frequency distribution of D1S549, D3S1754 and D12S375 in Chinese Han population in the Qingdao area and to study the three short tandem repeat(STR) loci for genetic application.
METHODSACD-blood specimens were collected from the unrelated individuals in Qingdao. The DNA samples were extracted with the use of Chelex method and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by polyacrylamide gel electrophoresis and were visualized by silver staining.
RESULTSEight alleles were found at D1S549 locus, eight alleles at D3S1754 locus and five alleles at D12S375 locus, and 22, 19 and 14 genotypes were identified respectively. No deviation from Hardy-Weinberg equilibrium was observed in the three loci. The heterozygosities expected of them were 0.7988, 0.7087 and 0.75 respectively. The exclusion probability was calculated as 0.6592 for D1S549, and 0.5605 for D3S1754, and 0.5864 for D12S375. The discriminating power of the three loci were 0.9143, 0.8382 and 0.8861. Comparison of the allelic frequencies in Qingdao area with those in Hans of Chengdu area by chi-square test showed a difference statistically significant at D1S549 locus but no difference at D3S1754 and D12S375 loci.
CONCLUSIONThis study reveals the structure of the three loci and the obtained data are beneficial to understanding the population genetics in Chinese Han population. All of the three loci have higher chance of exclusion and higher discriminating power, and they will be useful markers for individual identification, paternity test and genetics purposes.
China ; ethnology ; Gene Frequency ; Humans ; Polymorphism, Genetic ; Tandem Repeat Sequences
4.Genetic polymorphism of 9 STR loci in Han nation population in Shandong Province.
Bo-feng ZHU ; Gui-ping LÜ ; Chun-mei SHEN ; Gui-fa YAO ; Ying-fang TIAN ; Tao LI ; Zhen-yuan WANG
Acta Academiae Medicinae Sinicae 2002;24(6):620-625
OBJECTIVETo study genetic polymorphism of 9 STR loci in Han nation population in Shangdong Province.
METHODSWe investigated 100 unrelated individuals of Han nation population in Shandong Province and studied their genetic distribution of 9 STR loci and Amelogenin locus. Primers of 10 loci were labeled with the NHS-ester fluorescent dye 5-FAM (blue), Joe (green) or NED (yellow). The data of Han nation population were generated by multiple amplification and subjected to GeneScan, genotype and genetic distribution analysis.
RESULTS83 alleles and 220 genotypes were observed, with the corresponding frequency of 0.0050-0.4050 and 0.0100-0.2100. The average of heterozygosity was 0.7778, the accumulated discrimination power was 0.9999. The accumulated probability of exclusion paternity was 0.9999. The polymorphism information content was 0.5823-0.8396.
CONCLUSIONSChi-Square test indicated that the distribution of genotypes agreed with Hardy-Weinberg equilibrium.
Alleles ; China ; ethnology ; Gene Frequency ; Genetic Markers ; genetics ; Genotype ; Humans ; Polymorphism, Genetic ; Repetitive Sequences, Nucleic Acid ; Tandem Repeat Sequences
5.Genetic Diversity among Virulent Mega Plasmids pXO1 and pXO2 of Bacillus anthracis Isolated in Korea.
Sung Hee MUN ; Cheon Kwon YOO ; Hee Bok OH ; Won Keun SEONG ; Jeong Hoon CHUN ; Jae Yon YU ; Sang Seob LEE
Journal of Bacteriology and Virology 2003;33(4):253-264
We compared genetic variations in virulence mega plasmids pXO1 and pXO2 of twenty-seven Bacillus anthracis strains from Korean patients and environmental samples together with those of Bacillus anthracis Sterne, Pasteur and A2012 standard strains. Genetic variations were analyzed in twenty-three variable regions (ten and thirteen variablenumber tandem repeats and insertion/deletions in pXO1 and pXO2, respectively). The pXO1 plasmids were classified into 7 groups and pXO2 plasmids to 12 groups. Discrete phylogenic lineages could be differentiated between environmental and clinical strains by UPGMA (unweighted pair group method with average) method. In addition, clinical strains showed more variations than environmental isolates. The pXO2 plasmid appeared genetically more unstable than pXO1. A general plasmid genotype could be suggested for Korean soil isolates since they mostly clustered into a representative group.
Bacillus anthracis*
;
Bacillus*
;
Genetic Variation*
;
Genotype
;
Humans
;
Korea*
;
Plasmids*
;
Soil
;
Tandem Repeat Sequences
;
Virulence
6.Different Phase of Telomere Shortening with Age in Peripheral Blood Mononuclear Cells.
Ji Seon KANG ; Hoon KOOK ; Won Sang YOON ; Chan Jong KIM ; Tai Ju HWANG
Korean Journal of Pediatric Hematology-Oncology 1999;6(1):31-38
PURPOSE: Telomeres, special protein and tandem repeat DNA structure that cap the ends of linear eukaryotic chromosomes, are essential for chromosome structure and stability. Human telomeric DNA is known to shorten by 30~200 bp with each somatic cell division. However, the phase of telomere changes has not been studied extensively. METHODS: Telomere length was analyzed in the peripheral blood mononuclear cells (PBMCs) of 39 normal controls aged from newborn to 72 years by Southern blot hybridization using PharMingen's TeloQunatTM Telomere Length Assay Kit (Becton Dickinson Co.). RESULTS: The mean telomere length of the population was 9.68 kb (range, 5.65~14.40 kb). The length (kb) decreased with age (A) by the following regression: T=10.86 0.04 A (T=telomere length in kb; A=age in years) (r= 0.38; P=0.016). The mean telomere lengths according to age groups were: 10.26 kb for less than 15 years; 9.92 kb for 16 to 40 years; 8.03 kb for over 40 years. The telomere length of over 40 years was significantly shorter than that of less than 15 years (P=0.013), and than that of 16 to 40 years (P=0.011). The phase of telomere changes was evaluated by age subgroups. The shortening was fastest in individuals of age <5, while the length showed a plateau or slight increment in age group between 5 to 35. The length decreased steadily with age by the regression of 12.43+/-0.07 A (r= 0.500; P=0.034) in age group over 35. CONCLUSION: Telomere length of PBMCs decreases with age, and the different phase of telomere length shortening may suggest that the shortening of telomere is not a constant process over lifespan, but a dynamic process that is differently regulated in age groups.
Blotting, Southern
;
Cell Division
;
Chromosome Structures
;
DNA
;
Humans
;
Infant, Newborn
;
Tandem Repeat Sequences
;
Telomere Shortening*
;
Telomere*
7.Current Situation of Antimicrobial Resistance and Genetic Differences in Stenotrophomonas maltophilia Complex Isolates by Multilocus Variable Number of Tandem Repeat Analysis.
Ji Young RHEE ; Jae Hoon SONG ; Kwan Soo KO
Infection and Chemotherapy 2016;48(4):285-293
BACKGROUND: Stenotrophomonas maltophilia is one of several opportunistic pathogens of growing significance. Several studies on the molecular epidemiology of S. maltophilia have shown clinical isolates to be genetically diverse. MATERIALS AND METHODS: A total of 121 clinical isolates tentatively identified as S. malophilia from seven tertiary-care hospitals in Korea from 2007 to 2011 were included. Species and groups were identified using partial gyrB gene sequences and antimicrobial susceptibility testing was performed using a broth microdilution method. Multi locus variable number of tandem repeat analysis (MLVA) surveys are used for subtyping. RESULTS: Based on partial gyrB gene sequences, 118 isolates were identified as belonging to the S. maltophilia complex. For all S. maltophilia isolates, the resistance rates to trimethoprime-sulfamethoxazole (TMP/SMX) and levofloxacin were the highest (both, 30.5%). Resistance rate to ceftazidime was 28.0%. 11.0% and 11.9% of 118 S. maltophilia isolates displayed resistance to piperacillin/tazobactam and tigecycline, respectively. Clade 1 and Clade 2 were definitely distinguished from the data of MLVA with amplification of loci. All 118 isolates were classified into several clusters as its identification. CONCLUSION: Because of high resistance rates to TMP/SMX and levofloxacin, the clinical laboratory department should consider providing the data about other antimicrobial agents and treatment of S. maltophilia infections with a combination of antimicrobials can be considered in the current practice. The MLVA evaluated in this study provides a fast, portable, relatively low cost genotyping method that can be employed in genotypic linkage or transmission networks comparing to analysis of the gyrB gene.
Anti-Infective Agents
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Ceftazidime
;
Korea
;
Levofloxacin
;
Methods
;
Molecular Epidemiology
;
Stenotrophomonas maltophilia*
;
Stenotrophomonas*
;
Tandem Repeat Sequences*
8.A study of genetic polymorphism of the STR locus D2S441 in Chinese Han population in Chengdu.
Daixin HUANG ; Lin ZHANG ; Mei Yun WU ; Guo Di CHEN ; Yu Bo CHEN
Journal of Forensic Medicine 2001;17(1):15-62
Using PCR and PAG, followed by silver staining, the tetrameric STR D2S441 locus was studied in 260 unrelated Chinese individuals living in Chengdu. 9 alleles and 26 genotypes were observed. The range of fragment size was 131 bp to 155 bp. The genotype distribution of D2S441 locus in Han population was in accordance with Hardy-Weinberg equilibrium. Family survey confirmed Mendelian inheritance of alleles. The discriminating power (Dp), observed heterozygosity (H), polymorphism information content (PIC) and power of exclusion (PE) were 0.9084, 0.7885, 0.7390 and 0.5778 respectively. The results demonstrated that this locus was highly polymorphic and could be used for forensic identification and paternity testing.
Alleles
;
Asian People/genetics*
;
China
;
Forensic Medicine
;
Genetics, Population
;
Genotype
;
Humans
;
Polymorphism, Genetic
;
Tandem Repeat Sequences
9.A study of genetic polymorphism of the STR loci D20S85 and D6S477 in Han population living in Wuhan.
Hai-yan SONG ; Rong-zhi YANG ; Qing-en YANG
Journal of Forensic Medicine 2002;18(1):17-18
OBJECTIVE:
The genetic polymorphism of two STR loci, D20S85 and D6S477, were studied in 280 unrelated Chinese individuals in Wuhan.
METHODS:
The PCR amplified products were analyzed by PAGE and silver staining.
RESULTS:
10 and 9 alleles were observed in these two STR loci, and the discriminating power (DP) were 0.9085 and 0.9127 respectively. No deviations from Hardy-Weinberg equilibrium were found. The two STR loci had been successfully applied to individual identification and paternity testing.
CONCLUSION
The results demonstrated that the two loci were useful for forensic identification.
Alleles
;
Asian People/genetics*
;
China
;
Forensic Medicine
;
Gene Frequency
;
Humans
;
Polymorphism, Genetic
;
Tandem Repeat Sequences/genetics*
10.Diversity of paternity index with different allele frequencies.
De-jian LU ; Qiu-ling LIU ; Hui-ling LU
Journal of Forensic Medicine 2005;21(3):197-199
OBJECTIVE:
To evaluate the diversity of combined paternity index (CPI) of multiple STR loci when different population allele frequencies was used to calculate the paternity index.
METHODS:
CPI of 13 CODIS (combined DNA index system) loci for 108 trio cases and 108 duo cases selected randomly were calculated by using five Chinese Han population allele frequencies, respectively.
RESULTS:
The CPI range for trio cases and duo cases were 2077.63-50897711626.46 and 25.12-2998685141, respectively. When different population allele frequencies were applied to the same case, the ratio of maximum CPI and minimum CPI, which was more than 100, for trio cases and duo cases were 20 cases (19.52%) and 13 cases (12.04%), respectively.
CONCLUSION
The variation of CPI value of the CODIS loci was obvious with different allele frequencies. To prevent the error causing by uncertain allele frequencies, a conservative CPI value should be calculated in paternity testing.
Alleles
;
China
;
DNA Fingerprinting
;
Forensic Medicine
;
Gene Frequency
;
Genetics, Population
;
Humans
;
Paternity
;
Tandem Repeat Sequences/genetics*