Nucleic acid detection in the diagnosis and prevention of schistosomiasis.

Schistosomiasis is an important zoonotic parasitic disease that causes serious harms to humans and animals. Surveillance and diagnosis play key roles in schistosomiasis control, however, current techniques for surveillance and diagnosis of the disease have limitations. As genome data for parasites are increasing, novel techniques for detection incorporating nucleotide sequences are receiving widespread attention. These sensitive, specific, and rapid detection methods are particularly important in the diagnosis of low-grade and early infections, and may prove to have clinical significance. This paper reviews the progress of nucleic acid detection in the diagnosis and prevention of schistosomiasis, including such aspects as the selection of target genes, and development and application of nucleic acid detection methods.

Tibetan medicine "RNSP" in treatment of Alzheimer disease.

Alzheimer disease (Alzheimer Disease, AD) is one of the most common type in senile dementia. Its main pathological features were that a large number of senile plaques gathered in brain extracellular and tangles fibrosis appeared in nerve cells. Currently, the pathogenesis of AD is still uncertain, and scale investigation and combined brain CT, MRI data were analyzed mainly for clinical diagnosis. Mitigation and improvement of the nervous system activity to interfere with the subsequent behavior of the patients are the main methods for treatment. In clinical no drug can really prevent and cure AD. From the view point of Tibetan medicine studies, Tibetan medicine RNSP has effect on improving memory and repairing the neurons in the brain. In this study, we combined the characteristics of AD pathology, pathogenesis, diagnosis and treatment methods to explore the feasibility of Tibetan medicine RNSP for the treatment of AD to provide new ideas for the diagnosis and treatment of AD.

Association of polymorphisms in FLT3, EGFR, ALOX5, and NEIL3 with glioblastoma in the Han Chinese population.

Glioblastoma (GBM) is the highest-grade glioma in astrocytoma. Patients often have poor prognosis due to therapeutic resistance and tumor recurrence. Identification of the genetic factors of GBM could be important contribution to early prevention of this disease. We genotyped 17 tag single-nucleotide polymorphisms (tSNPs) from nine genes in this study, including 72 cases and 302 controls. SNP genotyping was conducted using Sequenom MassARRAY RS1000. Statistical analysis of the association between tSNPs and GBM was performed using the χ (2) test and SNPStats software. The rs3829382 in FLT3 was associated with increased odds of developing GBM using the χ (2) test. When we analyzed tSNPs under different inheritance models, we found rs9642393 in EGFR increased odds of developing GBM in the dominant model. After stratification by gender, we found that rs12645561 in NEIL3 and rs2291427 in ALOX5 were associated with developing GBM. Polymorphisms within FLT3, EGFR, NEIL3, and ALOX5 may contribute to the occurrence of GBM in the Han Chinese population. However, the functional significance of these polymorphisms needs further investigation.

Polymorphisms and phenotypic analysis of cytochrome P450 2D6 in the Tibetan population.

The cytochrome P450 2D6 enzyme (CYP2D6) metabolizes about 25% of prescribed drugs in the endoplasmic reticulum, and genetic polymorphisms in CYP2D6 can greatly affect its activity and lead to differences among individuals in drug efficacy and adverse drug reactions. To investigate genetic polymorphisms in CYP2D6 among Tibetan Chinese, we directly sequenced the whole gene in 96 unrelated, healthy Tibetans from The Tibet Autonomous Region of China and screened for genetic variants in the promoter, exons, introns, and 3'UTR. We detected fifty-one genetic polymorphisms in CYP2D6, and 16 of them are novel. The allele frequencies of CYP2D6*1, *2, *5, *10, *41, and *49 were 0.25, 0.43, 0.02, 0.29, 0.02, and 0.01, respectively. The frequency of CYP2D6*10, a putative poor-metabolizer allele, was lower in our sample population compared with that in the Han Chinese population (p<0.001). In addition, haplotype analysis allowed 15 CYP2D6 haplotypes to be classified into three groups. In conclusion, our results provide basic information about CPY2D6 alleles in Tibetans and suggest that the enzymatic activities of CYP2D6 may differ among the diverse ethnic populations of China. Our results provide a basis for safer drug administration and better therapeutic treatment among Tibetans.

[Genetic polymorphisms of 14 Y-chromosomal short tandem repeat loci and haplotypes in Tibetan].

OBJECTIVE: To reveal the allelic frequencies and haplotype frequencies of fourteen Y-chromosome short tandem repeat (STR) loci in a Tibetan population. METHODS: The Y-chromosomal STR loci were analyzed from 126 healthy unrelated autochthonous male individuals of Chinese Tibetan using a multiplex PCR system. Allele and haplotype frequencies for these loci were determined by the AmpFISTR Y filer PCR Amplification kit. RESULTS: One hundred and twenty-one alleles were detected from the 14 STR loci. The allele diversity values (DP) for each locus ranged from 0.4104 (DYS391) to 0.9489 (DYS385a, b), the DP value of these loci were higher than 0.5 except for that of DYS391. A total of 105 haplotypes were identified in the Y-STR loci, among which 103 were unique, while two occurred more than once. The overall haplotype diversity for the Y-STR loci was 0.9998, and the discrimination capacity was 0.9898. CONCLUSION: The 14 STR loci above belong to loci of high discriminating ability, the haplotypes are highly polymorphic.

[Determination of HLA-DRB1 gene polymorphism in Luoba ethnic group of Tibet].

OBJECTIVE: To investigate the frequencies of allele and genotype of HLA-DRB1 gene in Luoba ethnic group. METHODS: HLA-DRB1 genes from 92 individuals of Luoba ethnic group in Tibet Autonomous region were investigated, using PCR-SSO (polymerase chain reaction -sequence specific oligo-nucleotide) genotyping methods. We compared allele frequencies of Luoba population in HLA-DRB1 locus with that of various ethnic groups distributed worldwide, constructed the phylogenetic tree by UPGMA (unweighted pair group method with arithmetic mean), and counted genetic distance by Nei measure. RESULTS: Of the 11 DRB1 alleles detected, the two most common genes were DRBI * 04( gene frequency: 27.20% ) and DRB * 12 (25.50%) , which covered 52.70% of the total alleles detected from Luoba ethnic group. The frequencies of HLA-DRB1 * 14(15.20% ), DRB1 * 15(9.80% ) and DRB1 * 08(8.20% ) were more than 5%. Luoba was unique in the distribution of HLA alleles. The genetic distance between Luoba and Tibetan was closer than that with other population. A dendrogram based on the DRB1 genes by cluster analysis suggested that Luoba ethnic group might cluster with Tibetan firstly, then cluster with other population living in China (except Uygr) , and cluster with Caucasian and Black finally. CONCLUSION: The HLA-DRBI gene frequency of Luoba individuals in Tibet Linzhi had some differences compared with that of other Chinese population. The kindred relation between Luoba and Tibetan was closer than that with other population, which was coincident with the results of ethnology, history and sociology.