Polymorphisms in genes HSD17B1 and HSD17B2 and uterine leiomyoma risk in Chinese women.

Purpose: To evaluate the association of HSD17B1 and HSD17B2 gene polymorphisms with uterine leiomyoma in Chinese women.

Methods: 121 Chinese women with clinically diagnosed uterine leiomyoma and 217 healthy normal Chinese women were investigated to compare three single nucleotide polymorphisms (SNPs) (rs605059 and rs676387 of HSD17B1 gene and rs8191246 of HSD17B2 gene) by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing method.

Results: All the SNPs were polymorphisms in Chinese women.

Association between single-nucleotide polymorphisms in pre-miRNAs and the risk of asthma in a Chinese population.

Single-nucleotide polymorphisms (SNPs) in pre-miRNAs may alter microRNA (miRNA) expression levels or processing and contribute to susceptibility to a wide range of diseases. We investigated the correlation between four SNPs (rs11614913, rs3746444, rs2910164, and rs229283) in pre-miRNAs and the risk of asthma in 220 asthma patients and 540 controls using polymerase chain reaction-restriction fragment length polymorphism methodology and DNA-sequencing. There were significant differences in the genotype and allelic distribution of rs2910164G/C and rs2292832C/T polymorphisms among cases and controls.

CD86 +1057 G/A polymorphism and the risk of colorectal cancer.

CD86 (B7-2), one of the costimulatory molecules on antigen-presenting cells, plays essential roles not only in autoimmunity and transplantation but also in tumor immunity. The purpose of this study was to investigate whether CD86 gene polymorphism was involved in predisposing an individual to colorectal cancer (CRC). The CD86 +1057 G/A polymorphism was genotyped by performing polymerase chain reaction-restriction fragment length polymorphism in 273 patients with CRC and 292 healthy controls.

Characteristics of eight X-STR loci for forensic purposes in the Chinese population.

X-chromosomal short tandem repeats (ChrX STRs) loci are used for forensic practice in recent years. Considering the unique heredity characteristics of ChrX, recombination and linkage disequilibrium (LD) among ChrX STR loci vary between male and female and different populations as well. However, there is a lack of data for analysis of recombination and linkage disequilibrium on ChrX STR loci in the Chinese population.

[The polymorphism of ten STR loci in Chinese Han population in Chengdu].

Objective: To obtain data of polymorphism distribution of 10 short tandem repeat (STR) D1S2145, D3S2433, D5S1507, D5S2502, D8S2319, D9S926, D16S767, D17S2181, GATA140E03, GATA196B10 in Chinese Han population in Chengdu and to evaluate their usefulness in the field of forensic science and their species specificity.

Methods: DNA of 100 unrelated individuals of Chengdu Han population was extracted with Chelex method, amplified by PCR, then typed with silver staining after polyacrylamide gel electrophoresis(PAGE). Ten different animals were selected as the controls in this study for evaluating the species specificity of the ten STR loci.

[Multiple amplification of 16S rRNA gene and Cytb gene in mitochondrial DNA for species identification].

Objective: To establish a fluorescent multiple amplification system of 16S rRNA and Cytb genes located in mitochondrial DNA for species identification.

Methods: A pair of primers of 16S rRNA gene and Cytb gene of the mitochondrial DNA was designed with the software Primer 5.0 to construct a multiple amplification system.

CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.

Purpose: The aim of the study was to evaluate the association of CYP1A1 and CYP1B1 polymorphisms with uterine leiomyoma in Chinese women.

Methods: We investigated 100 women with clinically diagnosed uterine leiomyoma and 110 healthy normal subjects from Chinese women. The genetic distribution of two CYP1A1 polymorphisms at MspI, Ile462Val and four CYP1B1 polymorphisms at Arg48Gly, Ala119Ser, Leu432Val, Asp449Asp were analyzed by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing method.

[Analysis of Y-chromosomal biallelic polymorphisms in Sichuan Han of Chinese population].

Objective: To evaluate the forensic utility of Y-single nucleotide polymorphisms (SNPs) markers.

Methods: Allele-specific PCR, restriction enzyme digestion or direct PCR were performed to examine 10 different SNP loci on Y chromosome, namely M9, M15, M45, M89, M95, M122, M134, M145, M173 and P25 in 161 Chinese Han males.

Results: A total of 8 of the 10 SNPs are reported to be polymorphic in Chinese.

[A study of paternity testing with considering mutation].

Objective: To formulate recommendations in the evaluation of results of genetic analyses in paternity testing under considering mutations.

Methods: A total of 15 short tandem repeat(STR) loci were employed for this study, which were included CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, PentaD and PentaE. Both 100 cases of true trio and 100 cases of false trio were investigated.

[Multiplexed mutagenically separated PCR assay for rapid detection of SNP loci in mitochondrial DNA coding region].

Objective: To develop a multiplexed mutagenically separated PCR (MS-PCR) for single nucleotide polymorphism (SNP) loci typing in mitochondrial DNA coding regions and to study the applications in investigating the allele frequencies and haplotypes of four SNP loci in mitochondrial DNA coding regions in Chinese Chengdu Han population.

Methods: Four SNP loci C12705T, A8701G, G8584A and C10400T, two allele specific forward primer with 4 bases different in size and a common reverse primer were designed for SNP typing. The primers simultaneously were amplified in a single tube.

[Allele frequencies and species specificity of five short tandem repeat loci of Chinese Han population in Chengdu].

Objective: To obtain the data in polymorphism distribution of the five short tandem repeat (STR) loci: D18S979, D11S2014, D18S548, D1S1667 and GATA164F07 of Chinese Han population in Chengdu, and to evaluate their usefulness in the field of species specificity in forensic science.

Methods: PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining techniques were used to analyze the DNA samples from 100 unrelated individuals of Chinese Han ethnic group in Chengdu. Twelve different animals: monkey, pig, dog, bull, goat, chicken, duck, eel, mudfish, rabbit, guinea pig and mouse were selected as controls in this study for evaluating the species specificity of the five STR loci.

[Forensic application of 9 Y-STRs fluorescence-labeled multiplex amplification system].

Objective: In order to increase significantly the discriminatory potential of Y-STR systems available to the forensic community, we have developed a system capable of simultaneously amplifying 9 Y-STR loci by fluorescence-labeled multiplex PCR technique.

Methods: Primers of STR loci DYS434, GATA-A10, DYS438 and DYS439 were labeled with 6-FAM, primers of STR loci DYS531, DYS557, DYS448 were labeled with HEX, and primers of STR loci DYS456, DYS444 were labeled with TAMRA, respectively. PCR products were analyzed using capillary electrophoresis and GeneScan Software on the ABI Prism310 DNA Analyzer.

[Polymorphisms of seven short tandem repeat loci: D1S2142, D1S3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 of Chinese Han population in Chengdu].

Objective: To obtain the data in polymorphism distribution of the seven short tandem repeat (STR) loci: D1S2142, D1S3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 of Chinese Han population in Chengdu, and evaluate the polymorphism data usefulness to the forensic science.

Methods: PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining techniques were used to analyze the DNA samples from unrelated individuals of Chinese Han ethnic group in Chengdu.

Results: Eleven alleles and twenty-three genotypes were observed in D1S2142.

[Constructing of STR slippage model by optimizing some factors].

Objective: To construct STR slippage model and study factors involved in this procedure.

Methods: DNA samples were amplified with the technology of Degenerate oligonucleotide- primed PCR, then their products were taken as later DNA template and their STR genotype were analyzed by optimizing several factors.

Results: STR slippage model was constructed.

Effect of caspase 9 related signaling molecules on the apoptosis of human vascular endothelial cell induced by homocysteine.

Objective: To understand the role of mitochondria associated signaling pathway in the apoptosis of human vascular endothelial cell induced by homocysteine (Hcy).

Methods: The mRNA and protein expression levels of the up-stream signaling molecules of caspase 3, Bcl 2, caspase 9, and cytosolic cytochrome-c, were investigated. The in vitro cultured human umbilical vein endothelial cells with homocysteine at different concentrations were incubated for 24 h.

[Study of Five STR Loci in A Chinese Han Population.].

To understanding the allele structure and genetic polymorphisms at five STR loci in Chinese Han population, and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals. DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed using both PAGE horizontal electrophoresis with discontinuous buffer system and automated fluorescence detection approach.

[The STR typing system by fluorescence labeled Multiplex-PCR technique and its forensic application].

Objective: To build the four STR loci typing system by fluorescence labeled Multiplex-PCR technique, applied in the parentage test and personal identification in forensic medicine.

Methods: The primer of D3S1754 and D1S549 were labeled with 6-FAM and TMR respectively, primers of D4S2366 and D12S375 were labeled with HEX. Multiplex-PCR products were analysed on the ABI PRISM 310 Genetic Analyzer where the Data Collection Software 3.

[Distribution of haplotypes for four Y-sTR loci and validation in forensic science by using a double-fluorescent multiplex PCR system].

Objective: We focus on developing a multiplex PCR system for Y-STR loci that can be detected by double fluorescent system and assessing their usefulness in forensic mixture samples.

Methods: The primers of four Y-STR loci (DYS-GATA-A10, DYS531, DYS557 and DYS448) amplified by multiplex PCR technique were labeled with fluorescence, then the PCR products of these Y-STRs loci were detecting and typing by ABI PRISM310 Genetic Analyzer.

Results: When 120 unrelated individuals from the Han population in Chengdu were detected by the system, Y-GATA-A10, DYS531, DYS557 and DYS448 showed 5, 5, 8, 7 alleles, respectively.

[Constructing standard allelic ladders for four short tandem repeat loci and employing them in a population study on Han Nationality of Chengdu in China].

Objective: To solve the problems in the accuracy and standardization of short tandem repeats-polymerase chain reaction (STR-PCR) typing, the authors adopted the molecular clone technology in producing the standard allelic ladders of D1S1676, D2S2735, D11S1977 and D22S444 loci and applied them in a population study on the Hans in Chengdu, China.

Methods: PCR was used to produce several different allelic fragments of these loci. PCR products were eluted from the gel and re-amplified by PCR.

[Genetic polymorphism of 3 STR loci on chromosome X and its forensic application in Chinese population].

To investigate the genetic polymorphisms of three short tandem repeats loci of chromosome X in Chinese Han population in Chengdu area and its use in forensic science. Three X-chromosome linked short tandem repeat loci were analyzed by PCR followed by polyacrylamide gel electrophoresis. Hardy-Weinberg equilibrium was tested and forensic interested value was calculated .