Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China.

In this study, we collected blood samples from 1033 father-son pairs of a Han population from Guangdong Province, Southern China, of which 1007 fathers were unrelated male individuals. All together, 2040 male individuals were analyzed at 27 Y-chromosomal short tandem repeats (Y-STRs) with Yfiler(®) Plus system. A total of 1003 different haplotypes were observed among 1007 unrelated fathers, with the overall haplotype diversity (HD) 0.

Expressions of Osteopontin (OPN), ανβ3 and Pim-1 Associated with Poor Prognosis in Non-small Cell Lung Cancer (NSCLC).

Objective: To examine the expressions of osteopontin (OPN), (α) (ν) (β) (3) and Pim-1 in non-small cell lung cancer (NSCLC), and investigate their potential pathogenic roles in the development of NSCLC.

Methods: Immunohistochemistry was used to examine the expressions of OPN, (α) (ν) (β) (3) and Pim-1 in cohort (136 cases) of NSCLC samples and their adjacent normal lung tissue specimens. Statistical analysis was performed to evaluate the relationships among expressions of OPN, (α) (ν) (β) (3) and Pim-1 and their associations with patients clinico- pathological parameters.

Overexpression of osteopontin, αvβ3 and Pim-1 associated with prognostically important clinicopathologic variables in non-small cell lung cancer.

In this study, we examined the expression of osteopontin (OPN), αvβ3 and Pim-1 in non-small cell lung cancer (NSCLC) and investigated the potential clinical implications of their expression patterns in NSCLC. Immunohistochemical assays were used to examine the protein expression of OPN, αvβ3 and Pim-1 in 208 NSCLC samples and their adjacent normal lung tissue specimens. Statistical analyses were performed to evaluate the relationships between OPN, αvβ3 and Pim-1 expression patterns, and their association with the clinical-pathological parameters of NSCLC patients.

Expression changes and regulation of AR and IGF-1 in PC3 prostate cancer cells treated with sexual hormones and flutamide.

The study aims to investigate the changes and regulation of androgen receptor and insulin-like growth factor-1 in the PC3 prostate cells treated with 5α-dihydrotestosterone, estrone, and flutamide. The PC3 cells were cultured and treated with 5α-dihydrotestosterone, estrone, and flutamide. Immunocytochemistry and Western blot were used to detect the expression of androgen receptor and insulin-like growth factor-1.

[Genetic polymorphisms of Investigator Argus X-12 amplification system in Guangdong Han population].

Objective: To investigate the genetic polymorphisms of 12 X chromosome short tandem repeat (X-STR) loci of Investigator Argus X-12 amplification kit in Guangdong Han population.

Methods: DNA samples from 200 unrelated individuals (100 males and 100 females) and 103 families (59 father-mother-daughter trios and 44 mother-son duos) were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were separated and genotyped with capillary array electrophoresis.

Changes of androgen receptor and insulin-like growth factor-1 in LNCaP prostate cancer cells treated with sex hormones and flutamide.

Changes of androgen receptor (AR) and insulin-like growth factor-1 (IGF-1) were investigated in LNCaP cells treated with 5α-dihydrotestosterone (DHT), estrone and flutamide. Real-time PCR, immunocytochemistry and western blotting were used to detect the expression of AR and IGF-1 in the presence or absence of various kinase inhibitors. Low concentrations of DHT, estrone and flutamide increased the expression of AR and IGF-1, especially estrone, with concentration and time dependence.

Polymorphism analysis and evaluation of nine non-CODIS STR loci in the Han population of Southern China.

Background: Knowledge of allele and genotype frequencies is an essential prerequisite to the use of any human polymorphism in forensic work.

Aim: To study the genetic polymorphism and evaluate the application value of nine STR loci.

Subjects And Methods: Genotyping of nine STR loci, including D11S2368, D12S391, D13S325, D18S1364, D22-GATA198B05, D6S1043, D2S1772, D7S3048 and D8S1132, of 1050 unrelated individuals was performed with the STR_Typer_10_v1 kit and Genetic Analyzer 3100 and analyzed with PowerState V12.

[Polymorphism of 7 Y-STR loci in Chinese populations by multiplex PCR genotyping using fluorescein-labeled primers].

We reported the multiplex-PCR-based genotyping method for 7 Y-STR loci, including DYS456, DYS464a/b/c/d, DYS527a/b labeled with FAM (blue) and DYS531, DYS709, DYS448, DYS522 labeled with JOE (green). We investigated the haplotype distribution of these 7 Y-STR loci among 151 unrelated Han males in the Guangdong Province and 106 unrelated males in the Henan Province, and evaluated this method for forensic practice. The results showed that this method could successfully determine the genotypes using as little as 0.

[Genetics of heteroplasmy in the mtDNA control region among the Chinese Han population].

Objective: To explore the distribution and genetic pattern of heteroplasmy of mtDNA control region among Chinese Han population.

Methods: The human mtDNA control region was amplified into 6 amplicons overlapped partially each other. Then these amplicons were analyzed by DHPLC which we developed to detect low heteroplasmic signals.

[Successful preimplantation genetic diagnosis for alpha-thalassemia using fluorescent polymerase chain reaction].

Objective: To develop single-cell fluorescent gap polymerase chain reaction (PCR) assay for preimplantation genetic diagnosis (PGD) in couples at risk of having child with alpha-thalassemia.

Methods: Single cell fluorescent gap PCR which can detect the alpha-thalassemia Southeast Asia deletion (-SEA deletion), was applied to single lymphocytes and blastomeres which coming from four clinical PGD cycles.

Results: The Single cell fluorescent gap PCR can detect the alpha-thalassemia -SEA deletion, which account for 94% of hydrop fetalis in Chinese population with an amplification efficiency of 90.

Mutations of 15 short tandem repeat loci in Chinese population.

Objective: To explore the mutations of 15 short tandem repeat (STR) loci in PlowerPlex16 System which are world-widely used in parentage testing.

Methods: Mutations of 15 STR loci in PlowerPlex16 System were investigated in 1921 parentage testing cases from Chinese population.

Results: In 1921 parentage cases, seventy cases (3.

Closely linked polymorphic marker: successful application in preimplantation genetic diagnosis for beta-thalassemia.

Objective: To evaluate the applicability of the polymorphic marker closely linked with beta-globin gene for the preimplantation genetic diagnosis (PGD) in couples at risk of having child with beta-thalassemia.

Methods: Single cell multiplex nested PCR which coamplifies the beta-globin gene and the closely linked polymorphic marker, HumTHO1 gene, was applied in six clinical PGD cycles for four couples with beta-thalassemia.

Results: In six clinical PGD cycles, a total of 44 embryos were biopsied and 44 blastomeres were obtained.

[The characteristics of polymorphism and gene structure of DYF155S1 locus in Y-specific minisatellite from Chinese Uygur population].

The study is to reveal the diversity and gene structure of 5' and 3' end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population. Fluorescent MVR-PCR(minisatellite variant repeat by PCR), Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used respectively to detect 106 unrelated males among Chinese Uygur population. The polymorphisms of DYF155S1 locus could be revealed in three aspects: (1) polymorphic length: the sizes of amplified fragments ranged from 1405 to 2505 bp.

[DNA analysis of a 500 year mummy sample].

Objective: To accumulate experience for dated forensic matter analysis, for example, Mummy.

Methods: DNA are extracted by methods of phenol-chloroform and are purified by Wizard DNA clean-up system. The STRs locus are ampolification with Promega Powerplus 16 system.

[Studying the polymorphism at DYF155S1 locus in Chinese Han population by MVR-PCR marked with fluorescence].

The simple and useful genotyping methods of DYF155S1 locus by silver staining and fluorescence detection have been established. The blood samples from 155 unrelated males in Chinese Han population were typed by these two methods respectively and the same results were obtained. Among the 155 samples 66 alleles were found, out of them 38 were observed once only.