1.An analysis of mutations at 41 short tandem repeat loci in Han Chinese population
Weiwei WU ; Bing LIU ; Yanbin WANG ; Honglei HAO ; Yanjia SU ; Wenyan REN ; Huaifeng WANG ; Dejian LV
Chinese Journal of Forensic Medicine 2017;32(1):29-32
Objective The aim of this study was to investigate mutations of 41 STR loci. Methods 4546 bloodstain samples were typed from 1932 father–mother–child trios by using AGCU_21+1, AGCU_EX22 and GlobalFiler_ExpressTM amplification Kit. Calculate the mutation rates of STR loci. Results 154 mutations were identified at 32 of the 41 loci. The average mutation rate was 1.0×10-3per locus(95%CI: 0.8~1.1×10-3), and the mutations of SE33 was highest. 152(98.7%) mutation events were one-step mutation, 2(1.3%) events were two-steps. The mutation events occurred in 150 father–mother–child triplets. The mutations in 146(97.3%) triplets occurred at single locus, 8 mutations were observed at two loci in 4(2.7%) triplets simultaneously. 104 paternal and 22 maternal mutations could be determined under 79212 paternal and maternal allelictransfers. The ratio of paternal versus maternal mutations was 4.7:1, and 28 unassigned mutations were observed. Conclusion STR mutation are common in paternity testing, and we should pay more attention to it.
2.A clinic laboratory data analysis of peripheral CIK cell abnormal increase in adult
Huaifeng MAO ; Lijuan WU ; Tong LIU ; Jing XIE ; Xiaoli HU ; Yanyan WANG
Chongqing Medicine 2014;(35):4727-4730
Objective To analyze the clinic data of peripheral CIK cell increased abnormally in adults and discuss the function of the laboratory indexes on disease diagnosis ,monitoring and therapeutic intervention .Methods The peripheral blood of patients was collected to analysis .The flow cytometry instrument was used to detect lymphocyte subgroup .every patient was conducted bio‐chemical analysis ,function of blood coagulation tests and examination of marrow cell and the patient′s medical record was analyzed retrospectively .Results The total number of leukocyte and the percentage of lymphocyte in peripheral blood of patient were in‐creased;immunophenotyping results showed that lymphocytes was mainly T lymphocyte ,T8 cell number was increased and number of T4 cell was decreased;CIK(CD3+56+ ) cells were in the majority .the number of CIK cells was decreased after treatment and ranged from 28 .6% to 59 .7% .there was no obvious anomaly in examination of marrow cell before and after treatment .TNF‐α,IgM were increased mildly ,C4 was decreased mildly ,and other indicators were no obviously abnormal .Conclusion It is the first time that cases with CIK cells idiopathic increased .The monitoring of flow T lymphocyte subgroup can provide clinical diagnosis ,effect monitoring and it is worth to promote .
3.Hepatopancreatoduodenectomy for advanced biliary malignancies
Xiangsong WU ; Maolan LI ; Wenguang WU ; Xu’an WANG ; Huaifeng LI ; Runfa BAO ; Yijun SHU ; Jun SHEN ; Jun GU ; Xuefeng WANG ; Wei GONG ; Shuyou PENG ; Yingbin LIU
Chinese Medical Journal 2022;135(23):2851-2858
Background::Hepatopancreatoduodenectomy (HPD) has been considered the only curative treatment for metastatic cholangiocarcinoma and some locally advanced gallbladder cancers (GBCs). However, HPD has not yet been included in treatment guidelines as a standard surgical procedure in consideration of its morbidity and mortality rates. The aim of this study was to evaluate the safety and effectiveness of HPD in treating biliary malignancies.Methods::The medical records of 57 patients with advanced biliary cancer undergoing HPD from January 2009 to December 2019 were retrospectively retrieved. A case-control analysis was conducted at our department. Patients with advanced GBC who underwent HPD (HPD-GBC group) were compared with a control group (None-HPD-GBC group). Baseline characteristics, preoperative treatments, tumor pathologic features, operative results, and prognosis were assessed.Results::Thirteen patients with cholangiocarcinoma and 44 patients with GBC underwent HPD at our department. Significant postoperative complications (grade III or greater) and postoperative pancreatic fistula were observed in 24 (42.1%) and 15 (26.3%) patients, respectively. One postoperative death occurred in the present study. Overall survival (OS) was longer in patients with advanced cholangiocarcinoma than in those with GBC (median survival time [MST], 31 months vs. 11 months; P < 0.001). In the subgroup analysis of patients with advanced GBC, multivariate analysis demonstrated that T4 stage tumors ( P = 0.012), N2 tumors ( P = 0.001), and positive margin status ( P = 0.004) were independently associated with poorer OS. Patients with either one or more prognostic factors exhibited a shorter MST than patients without those prognostic factors ( P < 0.001). Conclusion::HPD could be performed with a relatively low mortality rate and an acceptable morbidity rate in an experienced high-volume center. For patients with advanced GBC without an N2 or T4 tumor, HPD can be a preferable treatment option.
4.Development of a 30 Y-STR Loci with middle or low mutations multiplex PCR system
Weiwei WU ; Honglei HAO ; Huaifeng WANG ; Bing LIU ; Xinglin MEI ; Xiang ZHOU ; Yanjia SU ; Wenyan REN ; Yanfang FU ; Xiaoting ZHENG ; Dejian LV
Chinese Journal of Forensic Medicine 2018;33(1):11-16
Objective To deveplope construct and validate a novel multiplex PCR system comprised of 30 Y-STR markers only with low and moderate mutation rates. Methods 30 Y-STRs characterized by low/moderate mutation rate and middle/high polymorphic was amplified simultaneously in a multiplex PCR system using the six color labeling fluorescence. PCR product was analyzed in a ABI 3500XL Genetic Analyzer. The accuracy, specifity, sensitivity and stability of the system and its validation on the mixtures were evaluated. Results The validation studies demonstrated that the system is a stable, accurate, and sensitive multiplex PCR system. The sensitivity was 0.0625ng DNA. Y-STR could be detection in a male/female DNA mixture ratio of 1:4. Conclusion The primary study demonstrates that this multiplex PCR system is effective and reliable for forensic routine DNA analysis. It will be very helpful for constructing Chinese forensic Y-STR database and population genetic research.