OBJECTIVE: To assess the patterns of linkage disequilibrium (LD) of 16 STR loci on X chromo- some and investigate the genetic stability. METHODS: Genomic DNA samples extracted from blood stains from 500 unrelated individuals and 885 lineage members from Eastern Chinese Han population were genotyped through multiplex amplification using IDtyperX-16 kit by our independent research followed by capillary electrophoresis. LD was assessed by PowerMarker v3.25 software and mutation rate of every locus was analyzed. RESULTS: LD were not found at the 16 X-STR loci. Allele mutations were observed at 10 loci. Among them, mutation rates of DXS6809 and DXS7132 were both up to 0.0048. CONCLUSION When the 16 X-STR loci included in IDtyperX-16 kit were used for parentage testing, product princi- ples can be applied to calculate the likelihood, but mutation should be taken into consideration in the case that the genotypes do not meet the genetic law (especially at DXS6809 and DXS7132).
Alleles ; Asian People/genetics* ; Blood Stains ; China ; Chromosomes, Human, X/genetics* ; Electrophoresis, Capillary ; Female ; Forensic Genetics/methods* ; Gene Frequency ; Genetic Loci/genetics* ; Genotype ; Humans ; Linkage Disequilibrium/genetics* ; Microsatellite Repeats/genetics* ; Multiplex Polymerase Chain Reaction ; Mutation ; Mutation Rate

objective To investigate the clinical signiifcance of the changes of angiotensionⅡ(AngⅡ) in children with IgA nephropathy (IgAN). Methods Thirty children diagnosed as primary IgA nephropathy by renal biopsy (IgAN group) and 30 healthy children (control group) were recruited from May 2008 to December 2012. The serum and urine AngⅡwere measured by ELISA and compared between IgAN group and control group. The AngⅡexpression in the renal tissue of IgAN group was detected by immuno-histochemical method, and was correlated with other clinical data.. Results Urine AngⅡwas signiifcantly higher in the primary IgAN group than that of control group (P<0.05);AngⅡexpression in the urine is positively correlated with proteinuria (r=0.37, P=0.046), and is associated with the severity of clinical presentation; AngⅡexpression in kidney tissue increased with the severity of the renal histopathologic grading (r=0.69, 0.79, P=0.000), while AngⅡin blood and proteinuria, AngⅡexpression in kidney tissue were not signiifcantly correlated with the number of crescents. Conclusions Urine AngⅡin children with IgAN is signiifcantly correlated with the severity of the pathologic stage and the level of proteinuria. Urine AngⅡdetection may be useful to assess the progress and prognosis of chronic kidney disease.

OBJECTIVE: To study the forensic application of Goldeneye DNA ID 26Y Kit in the She nationality. METHODS: Through capillary electrophoresis, the genotype of 26 Y-STR loci were analyzed in 53 unrelated male individuals from Fujian She nationality. The population genetics parameters such as allele frequency and haplotype diversity were calculated. The comparisons among the She nationality and the other nationalities were analyzed. RESULTS: A total of 126 alleles were observed on the 26 Y-STR loci of 53 unrelated male individuals. The allele frequencies and GD value ranged from 0.010 1 to 0.886 8 and 0.211 2 to 0.846 2, respectively. The GD value was greater than 0.5 in the 19 loci. A total of 47 haplotypes were observed. Based on R(ST), multidimensional scaling plot indicated that the genetic relationship among Fujian She nationality and Minnan Han nationality was closest, followed by Southern China Han nationality and Northern China nationality. CONCLUSION Goldeneye™ DNA ID 26Y Kit including 26 Y-STR loci has good polymorphism in the She nationality. As an additional system, it has forensic application value in some special cases.
Asian People/genetics* ; China ; Chromosomes, Human, Y/genetics* ; Ethnicity/genetics* ; Forensic Genetics ; Genetic Markers ; Genetics, Population ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Population Groups

OBJECTIVE: To evaluate the forensic application value of 30 insertion/deletion (InDel) loci included in Investigator DIPplex Kit in Han and She nationalities of Eastern China. METHODS: A total of 565 unrelated individuals in Han nationality and 119 ones in She nationality of Eastern China were investigated using Investigator DIPplex Kit. Allele frequencies, population genetics parameters of the 30 InDel loci were statistically calculated. RESULTS: In Han nationality, the mean Ho was 0.413 3, the mean DP was 0.551 1, the mean PIC was 0.320 0. And in She nationality, the mean Ho was 0.389 6, the mean DP was 0.543 3, the mean PIC was 0.310 0. No deviation from Hardy-Weinberg equilibrium was observed in Han and She nationalities (P > 0.05). CONCLUSION The 30 loci in Investigator DIPplex Kit show good genetic diversity in Han and She nationalities, and could be used as a supplemental tool for some special paternity cases.
Asian People/genetics* ; China ; Ethnicity/genetics* ; Female ; Forensic Genetics ; Gene Frequency ; Genetic Variation ; Genetics, Population ; Humans ; INDEL Mutation/genetics* ; Polymorphism, Genetic

Currently,the quick development of information technology is enriching the traditional teaching.As a new form of teaching resource,a micro-lecture focused on a specific topic is a good combination of information technology and traditional teaching.It not only increases the vividness and visualization of teaching,but also boosts the learning interest of students in the course.What's more,it helps to show an integral time-consuming experiment in 5-10 minutes'micro-vedio,which broadens the contents of the course and offers convenience of self-teaching for students.In this article,we took the example of micro-lecture"Western blot"in the course of immunologic technology to post-graduates in Shanghai University of Traditional Chinese Medicine to clarify the advantages and the procedures of a typical micro-lecture,and to discuss about it.The experience achieved from the construction of this micro-lecture may offer a new idea of modern information education reform.

OBJECTIVETo establish the triple-transgenic mouse model and study their biological characteristics by molecular biology, behavior and pathology.

METHODSHybrid the Tau and amyloid precursor protein (APP)/presenilins (PS1) transgenic mouse, the genotype of offspring mice were identified by PCR. Transcribed target genes were detected by RT-PCR. The protein expression of exogenous genes was detected by Western-blot. The pathological change of neurofibrillary tangles and senile plaque were observed by Bielschowsky silver staining and ABC immunohistochemical method. The changes time of learning and memory were observed by Morris water maze.

RESULTSAPP, PS1 and Tau genes were transcript in Tau/APP/PS1 mice. In 6 to 8 months old Tau/APP/PS1 mice, the neurofibrillary tangles and senile plaque could be found in cortex and hippocampus. In 6 months old Tau/APP/PS1 mice, the learning and memory abilities were worse.

CONCLUSIONWith the behavior change and pathological changes in Tau and beta-amyloid protein (AP), the Tau/APP/PS1 triple-transgenic mice can be used as a further study animal model of AD's pathogenesis and the target of drug treatment.

Alzheimer Disease ; pathology ; Amyloid beta-Protein Precursor ; genetics ; Animals ; Brain ; pathology ; Disease Models, Animal ; Learning ; Male ; Memory ; Mice ; Mice, Transgenic ; Neurofibrillary Tangles ; pathology ; Plaque, Amyloid ; pathology ; Presenilin-1 ; genetics ; tau Proteins ; genetics

To simulate intervention measures in controlling an outbreak of acute hemorrhagic conjunctivitis on one school campus by using the Susceptible-Infected-Recovered (SIR) model, to provide evidence for preparedness and response to the epidemic. Classical SIR model was used to model the epidemic. Malthusian exponential decline method was employed to estimate the infective coefficient β for interventions. The initial value of parameters was determined based on empirical data. The modeling was implemented using Matlab 7.1 software. Without interventions, the outbreak was expected to experience three phrases: (1)early stage (the first 5 days) in which the epidemic developed slowly and could be intervened easily; (2) rapid growing stage (6-15 days) in which the number of infected cases increased quickly and the epidemic could not be well controlled;and (3) medium and late stage (16 days and later) in which more than 90% of the susceptible persons were infected but the intervention measures failed to prevent the epidemic. With the implementation of interventions, the epidemic was predicted to be controlled in the early stage, under the SIR model. The simulation based on the SIR model kept an acceptable consistency with the actual development of epidemic after the implementation of intervention measures. The SIR model seemed effective in modeling interventions to the epidemic of acute hemorrhagic conjunctivitis in the schools.

As forensic DNA typing experienced three generations of genetic marker researching stage, short tandem repeat (STR) has been widely used in forensic identification as a mature tool. Further exploration of the human genome led to the discovery of polymorphism markers of single nucleotide polymorphism (SNP) and Insertion/Deletion (InDel). InDel, which combines the desirable characteristics of previous genetic markers as a new type of genetic marker, has got extensive concern in fields like medical molecular biology and forensic biology. This paper generally reviews the history of research and the corresponding results of InDel along the line of time axis as well as the different aims of these research focusing on the progress in the multiple amplification system with several InDel as the genetic marker (autosomal or X chromosome) in forensic biology and anthropology. Finally, the direction of research in this field and the problems to be solved have been put forward.
Chromosomes, Human, X/genetics* ; DNA/genetics* ; DNA Fingerprinting/methods* ; Forensic Genetics/methods* ; Genetic Markers ; Genetics, Population ; Genotype ; Humans ; INDEL Mutation/genetics* ; Microsatellite Repeats ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Retrospective Studies

OBJECTIVERett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects.

METHODSAllele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR).

RESULTSExcept for 2 cases who had a frameshift mutation; all the remaining 13 cases had a C-->T transition mutation. Paternal origin has been determined in all cases with the C-->T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele.

CONCLUSIONDe novo mutations in sporadic RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.

Chromosome Aberrations ; Chromosomes, Human, X ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics ; X Chromosome Inactivation