OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective To investigate the correlation between baseline data,early treatment response and prognosis in children with acute lymphoblastic leukemia(ALL).Methods Ninety-two children with ALL were divided into the endpoint event group(19 cases)and the event-free survival group(73 cases)according to whether there was an endpoint event(recurrence or death).The age and gender at initial diagnosis were recorded.Initial white blood cell count(WBC),platelet count(PLT),immunophenotype,chromosome karyotype,fusion gene,prednisone test,bone marrow remission status on the 15th day of induction chemotherapy and minimal residual disease(MRD)on the 15th,33rd and 55th day of induction chemotherapy were detected.The correlation between the above baseline data and early treatment response and the occurrence of endpoint event in children with ALL was analyzed.Logistic regression was used to analyze influencing factors of endpoint events in children with ALL.Receiver operating characteristic(ROC)curve was plotted to evaluate the predictive value of baseline data and early treatment response to endpoint events in children with ALL.Results The proportion of WBC≥100×109/L at first diagnosis,prednisone poor reaction and positive MRD on the 33rd day of induction chemotherapy were higher in the endpoint event group than those in the event-free survival group(P<0.05),and there were no significance differences in remaining indicators(P>0.05).Logistic regression analysis showed that prednisone poor reaction and positive MRD on the 33rd day of induction chemotherapy were risk factors for endpoint event in children with ALL(P<0.05),and the combined value of the two indicators was better than that of a single indicator in predicting endpoint events in children with ALL.Conclusion Prednisone poor reaction and positive MRD on the 33rd day of induction chemotherapy are associated with recurrence and death in children with ALL.

Objective To analyze and compare the clinical characteristics and therapeutic effects on pediatric patients with immune thrombocytopenia (ITP) among infants and children more than 3 years old.Methods The data of 1 015 ITP children who were hospitalized in West China Secondary Hospital of Sichuan University between January,2005 to January,2012 were collected.All of the patients were given hormone shock treatment and/or intravenous immunoglobulin (IVIG).According to the extent of platelet count and bleeding improvement,the outcome included complete response,response and no response.The patients were divided into the infant group(≤3 year old) and the elderly group (＞3 years old) based on age,acute group(≤6 months) and chronic group(＞6 months) based on the course of disease,their clinic data were retrospectively analyzed by software SPSS 12.0.Results (1) The male/female ratio of infants group was higher than that of the elderly group,and there was significant differences (57.1％ vs 45.3％,x2 =13.927,P ＜ 0.001).(2) The median platelet count on admission in the infant group was statistically higher than that of the elderly group(9 × 109/L vs 8 × 109/L,Z =2.448,P =0.014).The course of disease in the infant group was statistically shorter than that in the elderly group(7 d vs 75 d,Z =13.317,P ＜ 0.001).(3) The increase ratio of megakrocytes in infants group was lower than that in the elderly group,but no statistical differences were found (86.4％ vs 90.4％,x2 =2.534,P =0.111).(4) There was a significant difference in terms of hospital stays between the transfused patients and untransfused patients (6.5 d vs 7.1 d,Z =4.571,P ＜ 0.001).Under the same treatment,the time for the platelets to become normal in the transfused group was statistically lower than that in the non-transfused group (72 h vs 89 h,Z =4.116,P ＜ 0.001).(5)The time needed for the platelets to become normal (≥ 100 × 109/L) in the infant group were statistically lower than that in the elderly group(72 h vs 95 h,Z =6.540,P ＜0.001).(6)The ratio of chronic patients in the infant group was statistically lower than that in the elderly group (3.2％ vs 30.1％,x2 =178.42,P ＜ 0.001).Conclusions The male infants with ITP are more than the female and the course of disease is shorter.The infants' platelet count returns to normal faster,with better treatment efficacy and lower ratio of chronic patients.The hospital stays can be shortened in the patients with ITP who were transfused with platelets,but the course of treatment with hormone can not be shortened.