Objective To establish the rapid PCR am plification program and system and to verify the technical indexes. Methods PCR m ultiplex and capillary electrophoresis detection of 24 autosom al STR loci and one Y-STR loci using the 6-color fluorescence m arking technology, as w ell as Amelogenin and Y-InDel. Meanw hile, sensitivity, specificity, identity, stability, m ixing and a batch of sam ple tests w ere investigated, and the genotype of various routine sam ples and degraded, exfoliated cell sam ples w ere observed. Results The sensitivity of the system w as 0.062 5 ng. In addition, the genotype could be detected accu-rately only around 65 m in via rapid am plification. The species-specificity w as high and the genotyping of all kinds of dry blood specim ens of filter paper and m ixed, degraded, exfoliated cell sam ples w ere accu-rate. Conclusion The rapid am plification system can significantly im prove the detection rate, and obtain accurate and stable genotyping results, w hich m ay be im portant im plications for the establishm ent of STR database and study on population genetics and forensic identification.

Objective To investigate the genetic polymorphisms of 27 Y-chromosomal short tandem repeats (Y-STR) loci included in Yfiler(R) Plus kit in Han population of Chaoshan area,and explore the population genetic relationships and evaluate its application value on forensic medicine.Methods By detecting 795 unrelated Chaoshan Han males with Yfiler(R) Plus kit,haplotype frequencies and population genetics parameters of the 27 Y-STR loci were statistically analyzed and compared with available data of other populations from different races and regions for analyzing the genetic distance and clustering relation of Chaoshan Han population.Results Seven hundred and eighty-seven different haplotypes were observed in 795 unrelated male individuals,of which 779 haplotypes were unique,and 8 haplotypes occurred twice.The haplotype diversity (HD) was 0.999975 with discriminative capacity (DC) of 98.99％.The gene diversity (GD) at the 27 Y-STR loci ranged from 0.3637(DYS391) to 0.9559(DYS385a/b).Comparing with Asian reference populations,the genetic distance (Rst) between Chaoshan Han and Guangdong Han was the smallest (0.0036),while it was relatively larger between Chaoshan Han and Gansu Tibetan population (0.0935).The multi-dimensional scaling (MDS) plot based on Rst values was similar to the results of clustering analysis.Conclusion Multiplex detection of the 27 Y-STR loci reveals a highly polymorphic genetic distribution in Chaoshan Han population,which demonstrates the important significance of Yfiler(R) Plus kit for establishing a Y-STR database,studying population genetics,and for good practice in forensic medicine.

Objective:To compare two flexible embryo catheters and determine whether clinical out-come differs in the in vitro fertilization-embryo transfer (IVF-ET)cycles.Methods:This prospective control study was conducted by one doctor between July 2012 and November 2013.In the study,2 064 patients undergoing fresh embryo transfer by using IVF-ET/intracytoplasmic sperm injection (ICSI)-ET in Reproductive Medical Center of Peking University Third Hospital were recruited.The subjects were di-vided into two groups.Cook Sydney IVF embryo transfer catheters (product model:K-JETS-7019-SIVF) were used for embryo transfer in group 1 (n =949),and FrydmanCCD catheters (product model:131230301)were used in group 2 (n =1 115).Pregnancy outcomes were compared between these two groups.Results:There was no significant difference in age,diagnosis for infertility and stimulation proto-col used between the two groups.In addition,there was no difference in the number of oocytes collected and in the number and score of embryos transferred.The significantly higher implantation rate,clinical pregnancy rate,and live birth rate (34.40% vs.26.92%,51.21% vs.41.52%,42.57% vs. 33.09%,P <0.05)were observed in group 1 compared with group 2.The abortion rate was not signifi-cantly different between the two groups (11.93% vs.15.98%,P >0.05).The proportion of difficult transfer was higher in group 1 than that in group 2 (5.27% vs.3.41%,P <0.05 ).There was no difference in the clinical pregnancy rate and live birth rate between the two difficult transfer cycles.Con-clusion:The type of embryo transfer catheter affects the clinical outcome in IVF.Good clinical outcome can be obtained by using Cook Sydney IVF catheter,which is worthy of clinical promotion.

OBJECTIVETo analyze the genetic data of 30 insertion and deletion polymorphisms (InDel) loci included in an InvestigatorR DIPplex diagnostic kit, and to evaluate the forensic application in ethnic Tibetan population from China.

METHODSBy detecting 226 unrelated individuals with the Investigator(R) DIPplex kit, allelic frequencies and population genetics parameters of the 30 InDels were statistically analyzed and compared with available data derived from other populations from various regions.

RESULTSAfter the Bonferroni correction at a 95% significance level (P=0.0017), no significant departures from the Hardy-Weinberg equilibrium were observed except for the HLD114 locus. Linkage disequilibrium test showed no significant allelic association between all 30 loci after the Bonferroni's correction. The average heterozygosity (Ho) of all loci was 0.4125, the mean discrimination power (DP) was 0.5618, the mean polymorphism information content (PIC) was 0.3280, and the combined discrimination power (TDP) was 0.999999999990. The combined power of exclusion of all loci was 0.987 849 91 in trio cases and 0.94977125 in duo cases. Genetic distance between Tibetan and Han from Beijing was minimum (0.0068) in the 5 populations, while genetic distance between Tibetan and Uygur was maximal (0.0215).

CONCLUSIONMultiplex detection has revealed that these 30 InDel loci have a moderate distribution of genetic polymorphism among ethnic Tibetan group residing in Tibet, China.

Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Frequency ; Humans ; INDEL Mutation ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymorphism, Genetic ; Tibet ; ethnology ; Young Adult

Colorectal cancer (CRC)is one of the three major malignant tumors in the world with high morbidity and mortality. It is found that NPRL2 gene is closely related to the occurrence and development of CRC,and the expression of NPRL2 gene in CRC patients is significantly reduced. Oxaliplatin is the third generation of platinum anticancer drugs,and has been widely used in the chemotherapy of gastrointestinal tumors. Oxaliplatin can improve the survival rate of CRC patients,but some patients have drug resistance. NPRL2 gene can increase the sensitivity of oxaliplatin in the treatment of CRC,and is a potential target for treatment of CRC. This article reviewed the advances in study on NPRL2 gene and oxaliplatin in the treatment of CRC.