Genetic Polymorphisms and Mutations of 30 Y-STR Loci in Chinese Han Population.

OBJECTIVES: To investigate the genetic polymorphisms and mutations of 30 Y-STR loci in Chinese Han males and to evaluate its forensic application. METHODS: The DNA extracted from blood samples of 1 005 unrelated males and 1 008 father-son pairs （1 949 individuals in all） in Chinese Han population were typed using developed 30 Y-STR loci identification system. The parameters of population genetics and the mutation rates of each locus were analysed statistically. RESULTS: A total of 983 haplotypes were found in 1 005 unrelated males from Chinese Han population, of which 963 were unique. The overall haplotype diversity （HD） and discrimination capacity （DC） were 0.999 955 and 0.978 109, respectively. Totally 340 alleles were detected on 30 Y-STR loci, the value of gene diversity （GD） ranged from 0.410 3 to 0.952 3. The GD values of 24 out of the 30 loci were over 0.6. There were 30 269 allele transfers in 1 008 father-son pairs, one mutation in 68 father-son pairs, and the mutation of three father-son pairs occurred at two loci. On 26 Y-STR loci, 74 mutations were detected in 71 father-son pairs. The average mutation rates were 2.4×10⁻³ （95% CI： 1.9×10⁻³-3.1×10⁻³ï¼‰. Seventy-three mutation events were one-step mutation （98.6%）, 1 mutation event was two-step mutation （1.4%）. CONCLUSIONS: The multiplex PCR system with 30 Y-STR loci has high genetic polymorphism and low mutation rates in Chinese Han males. Therefore, the system shows important values in Y-STR database construction and population genetic research.

Femtosecond laser-induced size reduction and emission quantum yield enhancement of colloidal silicon nanocrystals: effect of laser ablation time.

Colloidal silicon (Si) nanocrystals (NCs) with different sizes were successfully prepared by femtosecond laser ablation under different laser ablation time (LAT). The mean size decreases from 4.23 to 1.42 nm by increasing the LAT from 30 to 120 min. In combination with structural characterization, temperature-dependent photoluminescence (PL), time-resolved PL and PL excitation spectra, we attribute room-temperature blue emissions peaked at 405 and 430 nm to the radiative recombination of electron-hole pairs via the oxygen-deficient centers related to Si-C-H2 and Si-O-Si bonds of colloidal Si NCs prepared in 1-octene, respectively. In particular, the measured PL quantum yield of colloidal Si NCs has been enhanced significantly from 23.6% to 55.8% by prolonging the LAT from 30 to 120 min.

Correlation between luminescence and structural evolution of colloidal silicon nanocrystals synthesized under different laser fluences.

We present a detailed investigation of the structural evolution and photoluminescence (PL) properties of colloidal silicon (Si) nanocrystals (NCs) synthesized through femtosecond laser ablation at different laser fluences. It is shown that the mean size of colloidal Si NCs increases from ∼0.97-2.37 nm when increasing laser fluence from 1.0-2.5 mJ cm-2. On the basis of structural characterization, temperature-dependent PL, time-resolved PL, and PL excitation spectra, we identify that the size-dependent spectral shift of violet emission is attributed to the quantum confinement effect. The localized excitons' radiative recombination via the oxygen-related surface states on the surface of the colloidal Si NCs is employed to explain the origin of the blue emission.

Origin of blue photoluminescence from colloidal silicon nanocrystals fabricated by femtosecond laser ablation in solution.

We present a detailed investigation into the origin of blue emission from colloidal silicon (Si) nanocrystals (NCs) fabricated by femtosecond laser ablation of Si powder in 1-hexene. High resolution transmission electron microscopy and Raman spectroscopy observations confirm that Si NCs with average size 2.7 nm are produced and well dispersed in 1-hexene. Fourier transform infrared spectrum and x-ray photoelectron spectra have been employed to reveal the passivation of Si NCs surfaces with organic molecules. On the basis of the structural characterization, UV-visible absorption, temperature-dependent photoluminescence (PL), time-resolved PL, and PL excitation spectra investigations, we deduce that room-temperature blue luminescence from colloidal Si NCs originates from the following two processes: (i) under illumination, excitons first form within colloidal Si NCs by direct transition at the X or Γ (Γ25 → Γ'2) point; (ii) and then some trapped excitons migrate to the surfaces of colloidal Si NCs and further recombine via the surface states associated with the Si-C or Si-C-H2 bonds.

16,17-dihydroxycyclooctatin, a new diterpene from Streptomyces sp. LZ35.

Genome sequence analysis of Streptomyces sp. LZ35 has revealed a large number of secondary metabolite pathways, including a complete gene cluster for the biosynthesis of cyclooctatin. This cluster contains four genes, cotB1-4, located in a 5-kb region. Optimization of fermentation medium for LZ35Δheng (SR107) led to the identification of cyclooctatin (1) and 16,17-dihydroxycyclooctatin (2), a new diterpene. The structures of these substances were elucidated on the basis of 1D-, 2D-NMR, and HRESIMS data. Cytotoxicity against MDA-MB-231 and A549 cell lines was also evaluated. Results demonstrated that gene cluster and pathway analysis are key to guided isolation of new natural products.

Identification and control of the origin of photoluminescence from silicon quantum dots.

We present a detailed investigation into the origin of photoluminescence (PL) from silicon quantum dots in hydrogenated amorphous silicon nitride annealed in oxygen ambient. On the basis of structural characterization, temperature-dependent PL, time-resolved PL, and PL excitation spectra, we identify that the luminescence of the oxidized samples originates from the localized exciton radiative recombination via the surface states related to Si-N or Si-O-Si bonds. In combination with the results due to annealing in argon and hydrogen environments, we have further shown that control of the origin of the PL can be realized by modifying the radiative defect density through annealing treatment.

In vitro IL-12 treatment of peripheral blood mononuclear cells from patients with leukemia or myelodysplastic syndromes: increase in cytotoxicity and reduction in WT1 gene expression.

Interleukin-12 (IL-12) has potent antitumor activities. We examined whether IL-12 enhanced the cytotoxicity of peripheral blood mononuclear cells (PBMNC) and decreased leukemia cells in 30 patients with leukemia or myelodysplastic syndromes (MDS): 12 acute myeloid leukemia (AML) (five in complete remission (CR) and seven in non-CR); six chronic myeloid leukemia (CML); and 12 MDS (three refractory anemia (RA), eight RA with excess of blasts and one chronic myelomonocytic leukemia). PBMNC from patients and five healthy volunteers were cultured at 5 x 10(5)/ml parallel with or without 100 units/ml of IL-12 for 3 days. Cytotoxicity of PBMNC against K562 cells was assessed by flow cytometry. To quantify the amount of leukemia cells, WT1 mRNA was measured by competitive reverse transcription polymerase chain reaction (RT-PCR), since WT1 mRNA is considered as a marker of minimal residual disease (MRD) in leukemia or MDS. The cytotoxicity of non-IL-12-treated PBMNC of 30 patients was 13.4+/-9.3% at the effector to target (E:T) ratio of 20:1, and significantly lower than that of normal subjects (25.7+/-8.4%). The cytotoxicity increased to 30.6+/-17.9% in the IL-12-treated PBMNC. WT1 mRNA in PBMNC of five healthy volunteers was less than 10(3) copies/microg of total RNA. Following the 3-day IL-12 treatment, mean WT1 mRNA of PBMNC was reduced from 10(4.8) to 10(4.2) copies/microg of total RNA in six CML patients, from 10(5.4) to 10(4.8) copies/microg in 12 MDS patients and from 10(5.0) to 10(4.2) copies/microg in five AML patients in CR, but not reduced in five of seven AML in non-CR. These results showed that IL-12 significantly enhanced PBMNC cytotoxicity and decreased the quantity of leukemia cells in PBMNC of most patients with MDS, CML and AML in CR. IL-12 might be of considerable benefit in the elimination of MRD in patients with hematological malignancies.

In utero ethanol exposure increases proenkephalin, a precursor of a neuropeptide that is inhibitory to neuronal growth.

BACKGROUND: One of the effects of fetal alcohol syndrome (FAS) is altered motor function. In an attempt to elucidate a potential cause of this ethanol-associated damage, we investigated the effects of in utero ethanol exposure on the production of proenkephalin (PE). METHODS: PE is the precursor of met- and leu-enkephalin, two neuropeptides that inhibit the proliferation of neurons and astrocytes. PE mRNA and PE peptide were measured in the striatum and nucleus accumbens because of the importance of these brain regions to motor function, their sensitivity to the effects of in utero ethanol exposure, and their high concentration of PE mRNA and PE peptide. RESULTS: The present studies demonstrated that in utero ethanol exposure is associated with increased PE mRNA in the striatum and nucleus accumbens. Of specific interest is the elevation in PE mRNA in the nucleus accumbens in 5-, 12-, and 19-day-old ethanol-exposed offspring and the fact that this change persists for at least 19 days after the last exposure to ethanol. Further studies of postnatal day 19 (PN19) offspring localized the abnormality in the nucleus accumbens to the core region, an area that contains enkephalinergic projections to another motor area-the substantia nigra. In the nucleus accumbens, the increased PE mRNA was associated with a greater proportion of PE-expressing neurons that have 41% to 60% of the cell area covered by grains associated with PE mRNA. CONCLUSIONS: Although we were not able to detect a change in the concentration of the PE peptide in the nucleus accumbens or striatum, we cannot rule out the possibility that the increase in PE mRNA was reflective of a functional abnormality.

Effects of maternal ethanol consumption and buspirone treatment on dopamine and norepinephrine reuptake sites and D1 receptors in offspring.

Previously, it was shown that in utero ethanol exposure results in decreased serotonin (5-HT) and altered concentrations of 5-HT reuptake sites and 5-HT1A receptors in fetal and/or postnatal rats. Because fetal 5-HT is an essential trophic factor, this laboratory previously investigated the hypotheses that the early ethanol-associated 5-HT deficit contributed to subsequent development abnormalities in the serotonergic system and that the effects of the fetal 5-HT deficit could be prevented by maternal treatment with buspirone, a 5-HT1A receptor agonist. The present report determined the effects of maternal treatment with buspirone on two other neurotransmitter systems in the developing offspring of ethanol-fed dams: dopamine (DA) and norepinephrine reuptake sites and D1 receptors in postnatal day 19 offspring of control and ethanol-fed dams, that received daily injections of saline or 4.5 mg/kg buspirone. These investigations found that in utero ethanol exposure significantly decreased norepinephrine reuptake sites in the dorsomedial hypothalamic nucleus and anteroventral thalamic nucleus. There was also an ethanol effect in the dorsal raphe. D1 receptors were moderately increased (5-10% increase) in the striatum, and DA reuptake sites were unchanged in PN19 ethanol-exposed offspring. No other significant ethanol-related effects were noted. Maternal buspirone treatment did not adversely affect the concentration of DA reuptake sites or D1 receptors in control rats. Thus, whereas buspirone exerts protective effects on the developing 5-HT system of ethanol-exposed rats, it does not appear to damage the development of the DA system. Maternal buspirone produced only one significant abnormality in control offspring; it resulted in significant reduction of norepinephrine reuptake sites in the DR.