Objective To evaluate the cause which leads to the allelic dropouts at D8S1179 locus while performing paternity testing with the AmpFlSTR Profiler Plus kit. Methods A singleplex amplification system for D8S1179 locus (GenBank Accession No. G08710) was used to verify the typing results by using the AmpFlSTR?Profiler plus kit. Dropout alleles were then sequenced. Results G to A transition was identified at the position of the 147th base of the GenBank sequence. The frequency of the G to A transition among the Chinese population was 0.50 X 10"2 (10 out of 2013 unrelated individuals). Conclusion The G to A transition may be located at the binding site of one of the primers of the AmpFlSTR?Profiler Plus kit. It is suggested that the G to A transition might be the cause of the allelic dropout at the D8S1179 locus.

Objective To evaluate the power of the PowerPlex?6 system for paternity testing. Method 633 cases of paternity testing were studied. After the megaplex STR amplification, the PCR products were genotyped by using the ABI377 DNA Sequencer. Results Among the 879 unrelated individuals, 197 alleles and 739 different genotypes were observed. The cumulated discriminating power was 1x 10-30. And the cumulative chance of exclusion was 0.999999999999987. 95 out of 633 cases were excluded. The RCP of all unexcluded cases were ≥0.9990. Gene mutations were found in 19 cases. Conclusion The Po-werPlex?16 system is powerful and reliable for paternity testing.

Objective To explore the effect on job competency by reforming Fundamental Nursing courses among undergraduate nursing students.Methods 86 nursing undergraduates in Grade 2011 were recruited as the control group receiving conventional teaching method,while 119 students in Grade 2012 were recruited as the experimental group receiving reform of fundamental nursing courses.The teaching outcomes were evaluated by using Job Competence of Nursing Students Evaluation Form and Medical education environment measurement table.Results The reform of fundamental nursing courses had significantly elevated all the aspects of professional competency among nursing undergraduates (P＜0.01),including personal traits,clinical ability,communication,critical thinking,specialty construction[(35.71 ± 3.82) vs.(33.41 ± 4.77),(55.29 ± 8.29) vs.(43.93 ± 8.68),(22.19 ± 2.71) vs.(19.88 ± 2.96),(16.83 ± 2.85) vs.(14.37 ± 2.71),(37.78 ± 6.31) vs.(32.42 ± 5.72)].Meanwhile,three dimensions of medical education environment for nursing students were also improved,including the student's perception of the teacher,self academic perception,self social perception [(35.23 ±5.72) vs.(31.28 6..22),(21.42 ±4.19) vs.(23.42 ±3.53),(19.44 ± 3.86) vs.(18.19 ± 3.47),t=-4.523、-3.503、-2.308,P＜0.01 or 0.05)].However,there was no significant differences in the aspects of learning perception,environment perception,and the total score of medical education environment (t=-1.866、0.725、-1.705,P＞0.05).Conclusions The professional competence and parts of the teaching environment around the nursing students have been elevated through the reform of Fundamental Nursing course.The reform also laid a solid foundation for the employment of nursing students.

[Objective] To analyze the phenomena and characteristics of the mutations in 24 short tandem repeat (STR) loci. [Methods] A total of 5 084 parentage confirmed cases were analyzed. The mutation events were screened. The sources of mutant alleles were ascertained. The mutation rates of STR loci were calculated. The rule and feature of mutation were analyzed. [Results] A total of 172 mutation events were observed in 24 STR loci. The mutation rate was between 0-0.492%. The number of mutation loci was between 1 and 3 for 1 case. The mutation model was accordant with stepwise mutation model. The maximum mutation step was four. In addition, the ratio of paternal versus maternal mutation was 3.55:1. [Conclusion] STR mutation events were common in paternity testing. The information of mutated STR loci should be considered and included when calculating PI value.

[Objective] To propose a criterion for making conclusions on paternity tests based on STR genotyping. [Method] To use binomial distribution formula to calculate minimal numbers of STR loci that must be tested for different scenarios in paternity testing. [ Results ] We proposed a set of criteria for making STR paternity testing conclusions. For triplet tests, concluded "paternity positive" for the following four cases when the cumulative paternity index (PI) was greater than 10 000: 1) no inconsistent STR locus was detected in 15 loci (PE > 0.571 4/locus) or 2) only one inconsistent STR locus was detected in 19 loci or 3) only two inconsistent STR loci were detected in 28 loci or 4) only three inconsistent STR loci were detected in 35 loci; otherwise, concluded "paternity negative" when at least four inconsistent STR loci had been detected. For single parent tests, concluded "paternity non-exclusive" for the following cases when the cumulative PI was greater than 10 000: 1) no inconsistent STR locus was detected in 18 loci (PE>0.411/locus) or 2) only one inconsistent STR locus was detected in 29 loci or 3) two inconsistent STR loci were detected in 41 loci; concluded "paternity negative" when three or more inconsistent loci were detected. [Conclusion] Our experience has proven that these criteria are robust in STR paternity testing.

[Objective] To learn about the genetic diversity,we studied the five X-chromosomal STR (X-STR) loci in Guangdong Han Nationality Groups.[Methods] The five Loci (DXS6803,DXS981,DXS6809,DXS6789,and DXS7132) were amplified in a pentaplex PCR reaction.PCR products were analyzed using capillary electrophoresis and ABI prism 3100 Genetic Analyzer,with GeneMapper ID 3.1 Analysis Software.[Results] A total of 363 individuals (181 unrelated male and 182 unrelated female) from Guangdong Han population were tested,54 alleles were observed for these loci.Polymorphism information content is 0.6935 ～ 0.8177.Power of discrimination in females was 0.8976 ～ 0.9562.Mean exclusion chance for X-STR in standard trios with daughters was 0.7805 ～ 0.8467.[Conclusion] The five loci in the multiplex system provide high polymorphism information for forensic identification and paternity testing,particularly for difficult paternity deficiency cases.

[Objective] To investigate the genetic polymorphism of nine short tandem repeat (STR) loci in Han population of Southern China.[Methods] The 9 STR loci (D11S2368,D12S391,D13S325,D18S1364,D22-GATA198B05,D6S1043,D2S1772,D7S3048,D8S1132) were amplified with STR＿Typer＿10＿v1 kit for 1619 unrelated individuals of Han population in Southern China.The PCR products were analyzed with 3100 genetic analyzer and GeneMapper ID 3.1v software.The forensic efficiency parameters were calculated by PowerState V12.xls and the Hardy-Weinberg equilibrium was tested with Arlequin 3.11v software.[Results] The genetic polymorphism of 9 STR loci in Han population of Southern China was quite high.The heterozygosities (H) ranged from 0.818 to 0.879.The match probabilities (MP) ranged from 0.031 to 0.063.The powers of discrimination (PD) ranged from 0.937 to 0.970,the probabilities of exclusion (PE) ranged from 0.632 to 0.753,the polymorphism information contents (PIC) ranged from 0.80 to 0.88 and the typical paternity indices (TPI) ranged from 2.74-4.13,respectively.These data were in accord with Hardy-Weinberg equilibrium (P ＞ 0.05).[Conclusion] Nine STR loci are highly polymorphic in Chinese Han population.They are new useful tools for paternity testing,individual identification,and for the research of human genetics and anthropology.

One patient confirmed as pituitary carcinoma by histopathology was retrospectively analyzed according to the great changes of tumor invasive growth in imaging examine and clinical characters. Clinically,pituitary carcinoma quickly grows,and the growth character of tumor is helpful in the diagnosis. Moreover,the treatment for pituitary carcinoma is different from pituitary adenoma.The rapid progress of pituitary adenoma indicates the possibility of primary carcinoma.More experience should be accumulated for the diagnosis and treatment of the disease.

Ectopic thyroid (ETG) is a thyroid tissue located outside the normal anatomical position, often occurring in the chest. Clinical symptoms are related to its location and its impact on adjacent structures. In ETG imaging examination, single photon emission computed tomography (SPECT) nuclide imaging of thyroid perchlorate ( 99Tc mO 4-) is the most commonly used method for localization and characterization. ETG with normal function shows high radiation uptake in the corresponding area. For difficult to distinguish tumors in the base of the tongue and the thyrohyoid region, 131I or 123I imaging with more specificity for thyroid tissue uptake is needed. ETG exhibits a variety of manifestations in computed tomography (CT) and magnetic resonance imaging (MRI), mostly irregular soft tissue density masses with clear boundaries and uneven density. There are low-density cystic changes or high-density calcifications within the masses, with uneven or uniform enhancement. In ultrasound, ETG is mainly hypoechoic, with some showing cystic solid echoes and abundant blood flow signals within the gland. Asymptomatic ETG patients usually do not require treatment, while symptomatic patients often require surgical resection and have a good prognosis. Before surgery, relevant examinations should be combined to clarify the nature of the tumor as much as possible, to avoid permanent hypothyroidism caused by misdiagnosis and misresection.

OBJECTIVETo explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.

METHODSA genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.

RESULTSMultipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.

CONCLUSIONThese results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.

Adult ; China ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; genetics ; Family Health ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; genetics ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Models, Genetic ; Pedigree ; Schizophrenia ; genetics