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.Advances in transcription activator-like effectors--a review.
Chinese Journal of Biotechnology 2015;31(7):1024-1038
As a protein originally found in plant pathogenic bacteria, transcription activator-like effectors (TALEs) can be fused with the cleaving domain of restriction endonuclease (For example Fok I) to form artificial nucleases named TALENs. These proteins are dependent on variable numbers of tandem Repeats of TALEs to recognize and bind DNA sequences. Each of these repeats consists of a set of approximately 34 amino acids, composed of about 32 conserved amino acids and 2 highly variable amino acids called repeat variant di-residues (RVDs). RVDs distinguish one TALE from another and can make TALEs have a simple cipher for the one-to-one recognition for proteins and DNA bases. Based on this, in theory, artificially constructed TALENs could recognize and break DNA sites specifically and arbitrarily to perform gene knockout, insertion or modification. We reviewed the development of this technology in multi-level and multi species, and its advantages and disadvantages compared with ZFNs and CRISPR/Cas technology. We also address its special advantages in industrial microbe breeding, vector construction, targeting precision, high efficiency of editing and biological safety.
Amino Acid Motifs
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Biotechnology
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DNA
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chemistry
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Endonucleases
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chemistry
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Tandem Repeat Sequences
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Trans-Activators
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chemistry
6.Progress in genotyping of Chlamydia trachomatis.
Chinese Medical Journal 2014;127(22):3980-3986
OBJECTIVETo review the common genotyping techniques of Chlamydia trachomatis in terms of their principles, characteristics, applications and limitations.
DATA SOURCESData used in this review were mainly from English literatures of PubMed database. The search terms were "Chlamydia trachomatis" and "genotyping". Meanwhile, data from World Health Organization were also cited.
STUDY SELECTIONOriginal articles and reviews relevant to present review's theme were selected.
RESULTSDifferent genotyping techniques were applied on different occasions according to their characteristics, especially in epidemiological studies worldwide, which pushed the study of Chlamydia trachomatis forward greatly. In addition, summaries of some epidemiological studies by genotyping were also included in this work for reference and comparison.
CONCLUSIONSA clear understanding of common genotyping techniques could be helpful to genotype C. trachomatis more appropriately and effectively. Furthermore, more studies on the association of genotypes of Chlamydia trachomatis with clinical manifestations should be performed.
Chlamydia trachomatis ; genetics ; Genotype ; Multilocus Sequence Typing ; Polymerase Chain Reaction ; Tandem Repeat Sequences ; genetics
7.Genetic polymorphism of four X chromosome short temden repeats loci in Hebei Han population.
Yi WANG ; Xue BAI ; Bin CONG ; Shu-jin LI ; Li-hong FU ; Chun-ling MA ; Yan-mei ZHAO ; Lei ZHANG ; Yan-feng ZHEN ; Yu-xia YAO
Chinese Journal of Medical Genetics 2007;24(6):713-716
OBJECTIVETo investigate the polymorphism of loci DXS6800, DXS6797, GATA172D05, DXS986 four loci in Hebei Han population.
METHODSThe genome DNA of unrelated individuals,the families and rotten materials were extracted with phenol-chloroform method and Chelex-100 method,respectively. The PCR products were detected by the polyacrylamide gel electrophoresis and DNA sequencing analysis.
RESULTSAmong 150 unrelated males and 150 unrelated females from Hebei Han population, 25 alleles were found in the 4 loci. One hundred and thirty-eight haplotypes of the male were detected. The haplotype diversity reached 0.9986.
CONCLUSIONThe findings provided the polymorphic data of DXS6800, DXS6797, GATA172D05, and DXS986 loci in Hebei Han population. The four loci are relatively abundant in polymorphic information for identification and the obtained data of Hebei Han population can be applied to the X-STR genetic data bank.
Alleles ; Chromosomes, Human, X ; Female ; Genetics, Population ; Humans ; Male ; Polymorphism, Genetic ; Tandem Repeat Sequences ; genetics
8.Identification of a rare allele FGA-13 in Guangdong Han population.
Ya-qing ZHANG ; Wei-hong CHEN ; Hui-ling LU
Chinese Journal of Medical Genetics 2013;30(6):742-744
OBJECTIVETo report on a rare allele FGA-13 identified in Guangdong Han population.
METHODSThe rare allele was detected by PCR-STR and DNA sequencing.
RESULTSThe core repeat sequence of rare allele FGA-OL is [TTTC]₃[TTTT][TTCT][CTTT]₅ [CTCC][TTCC]₂, which has been determined as FGA-13.
CONCLUSIONThe rare allele FGA-13 is also present in Guangdong Han population. This is significant for personal identification and paternity testing.
Alleles ; Asian Continental Ancestry Group ; genetics ; Female ; Genotype ; Humans ; Male ; Tandem Repeat Sequences
9.Comparison on discriminatory power of different variable number tandem repeats locus-set on genotyping of mycobacterium tuberculosis isolated in China.
Zhao-na LI ; Mei LIU ; Bing LÜ ; Xiu-qin ZHAO ; Zhi-guang LIU ; Wei-wei JIAO ; Lin SUN ; Wen-xiang JIA ; A-dong SHEN ; Kang-lin WAN
Chinese Journal of Preventive Medicine 2009;43(3):215-222
OBJECTIVETo evaluate the application of different variable number tandem repeats (VNTR) locus in genotyping of Mycobacterium tuberculosis (M.tuberculosis) strains isolated from eight provinces in China, and to find the suitable locus-set of VNTR for epidemical strains in China.
METHODSAll 140 M.tuberculosis strains were randomly selected from 2800 M.tuberculosis strains isolated from eight provinces in China, 27 VNTR loci were used for typing all isolates. Discriminatory power (Hunter-Gaston Index, HGI) of every locus and different locus-set were analyzed by BioNumerics software. Meanwhile, Spoligotyping was used to identify Beijing family and non-Beijing family. Then the HGI of different locus-sets in two families was also evaluated.
RESULTSAll 140 isolates were clustered into Beijing kindred (112 strains, 80%) and non-Beijing kindred (28 strains, 20%) by Spoligotyping. The discriminatory power of Spoligotyping in 140 isolates was 0.4589. Every locus showed different polymorphism and HGI were from 0 to 0.809. The number of VNTR loci with HGI higher than 0.5 in all strains, Beijing family and non-Beijing family was 8, 7 and 14 respectively. 27 loci were combined into four groups which included 8, 12, 15 and 24 VNTR loci respectively. Four locus-sets showed different polymorphism, HGI of eight-locus, 12-locus, 15-locus, and 24-locus set in 140 strains was 0.9991, 0.9882, 0.9980 and 0.9986, and their discriminatory power were calculated in Beijing kindred (HGI: 0.9987, 0.9318, 0.9969 and 0.9975) and non-Beijing kindred (HGI: 1, 0.9894, 1 and 1).
CONCLUSIONDifferent VNTR locus and locus-set showed different discriminatory power in the selected M.tuberculosis strains isolated from China. Eight-locus set can be used in molecular epidemiological study of M.tuberculosis in China after standardization.
Bacterial Typing Techniques ; DNA, Bacterial ; genetics ; Mycobacterium tuberculosis ; classification ; genetics ; isolation & purification ; Tandem Repeat Sequences
10.Distribution of CSF1PO TPOX and TH01 loci in five minority populations in Yunnan of China.
Ping ZOU ; Langping ZOU ; Bing SHEN ; Yan YANG ; Delin LI ; Jiayou CHU
Chinese Journal of Medical Genetics 2002;19(4):332-335
OBJECTIVETo investigate the distribution of CSF1PO, TPOX and TH01 in 5 minority populations only resided in Yunnan province.
METHODSDNA extraction from bloods and multiplex amplification of CSF1PO, TPOX and TH01 were carried out. The technique of denaturing polyacrylamide gel electrophoresis and silver staining method were used.
RESULTSThe data on the distribution of allele frequencies of 3 loci(CSF1PO, TPOX and TH01) in Achang Deang Bulang Pumi and Jino were collected and analyzed.
CONCLUSIONThe allele distribution of the loci were in good agreement with the Hardy-Weinberg equibrium. A satisfactory result was obtained and some significant genetics differences were noticed in different populations.
Alleles ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Tandem Repeat Sequences ; genetics