1.Analysis on characteristics of fifteen short tandem repeat genetic polymorphisms in Yunnan Han population
Chanchan JIN ; Jing HE ; Lei WANG ; Peng CHEN ; Jiqing YANG ; Xiuling LI ; Jie SU ; Baosheng ZHU
Chinese Journal of Immunology 2016;32(10):1428-1436
Objective:To research on the genetic polymorphism distributions of fifteen short tandem repeat ( STR ) loci (D8S1179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,VWA,TPOX,D18S51,D5S818, FGA) in Han race of Yunnan. Methods:A total of 313 specimens were collected from the unrelated individuals in Yunnan Han popu-lation. Genome DNA was extracted and amplified by multiplex PCR technique,the PCR products were analyzed by ABI-3130 genetic analyzer capillary electrophoresis detection, collected statistics of each STR loci genotypic frequency, and carried out the Hardy-Weinberg Genetic balance test. Results: No significant deviation from the Hardy-Weinberg Equilibrium was observed ( P>0. 05 ) , the heterozygosity of the fifteen STR loci in Yunnan Han population were found to be 0. 636-0. 901, Probability match was 0. 034-0. 220. Discrimination power of signal STR loci was 0. 780-0. 966, power of paternity exclusion was 0. 336-0. 797, polymorphism information content was 0. 555-0. 860,the combined accumulation discrimination power and exclusion probability for the 15 STR loci in Yunnan Han population were determined to be more than 0. 999 999 99 and 0. 999 998 408. The allele frequency of the 15 STR loci had a similarity compared with other areas in China,but also had a slight regional differences. Conclusion: The 15 STR loci( D8S1179, D21S11,D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA ) demonstrate high genetic polymorphism in Yunnan Han population, they have a high forensic science application value in paternity testing and individual identification.
2.Effects and the mechanism of triptolide on proliferation and apoptosis of breast cancer MCF-7 cells
Maojian CHEN ; Chanchan XIAO ; Li WANG ; Weiping YANG ; Qinghong QIN ; Changyuan WEI
The Journal of Practical Medicine 2017;33(23):3867-3870
Objective To explore the effects and mechanism of triptolide on proliferation and apoptosis of breast cancer MCF-7 cells.Methods MCF-7 cells were treated by different concentrations of triptolide.CCK-8 as-say was employed to detect the cell proliferation. The morphological changes were observed by an inverted micro-scope.The apoptosis rate was detected by flow cytometry.Expressions of Bcl-2,Bax,Survivin and Caspase-3 were measured by qRT-PCR and Western blot. Results Triptolide inhibited the proliferation of MCF-7 cells in a dose and time-dependent manner at a suitable range.Triptolide induced morphological changes and apoptosis.Triptolide also down-regulated Bcl-2 and Survivin expressions and up-regulated Bax and Caspase-3 expressions. Conclu-sions Triptolide inhibits proliferation and induces apoptosis of MCF-7 cells,and its mechanism may be related to down-regulation of Bcl-2 and Survivin expressions and up-regulation of Bax and Caspase-3 expressions.
3.Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region.
Yinhong ZHANG ; Lei WANG ; Jing HE ; Jingjing GUO ; Chanchan JIN ; Xinhua TANG ; Jinman ZHANG ; Hong CHEN ; Jie ZHANG ; Jie SU ; Baosheng ZHU
Chinese Journal of Medical Genetics 2020;37(4):384-388
OBJECTIVE:
To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies.
METHODS:
Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers.
RESULTS:
In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis.
CONCLUSION
No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
China
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Female
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Genetic Carrier Screening
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Genetic Counseling
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Genetic Variation
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Heterozygote
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Humans
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Male
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Muscular Atrophy, Spinal
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genetics
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Pregnancy
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Prenatal Diagnosis
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Survival of Motor Neuron 1 Protein
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genetics
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Survival of Motor Neuron 2 Protein
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genetics
4.Sedative efficacy of nitrous oxide combined with midazolam in extraction of impacted supernumerary teeth in children
SHU Huang ; WANG Ji ; CHEN Chanchan ; KUANG Yiyuan ; DING Guicong
Journal of Prevention and Treatment for Stomatological Diseases 2019;27(5):304-308
Objective:
To study the sedative efficacy and safety of nitrous oxide (N2O ) inhalation combined with oral midazolam in children with impacted supernumerary teeth for extraction under sedation and to provide a reference for the selection of anesthetic methods for children undergoing impacted teeth extraction.
Methods :
Sixty patients aged 5-10 years with maxillary impacted supernumerary teeth were randomly divided into three groups, with 20 in each group, as follows: the N2O group: N2O inhalation sedation before the operation; the midazolam group: oral midazolam sedation before the operation; the combination group: N2O inhalation combined with oral midazolam sedation before the operation. Sedation was performed before extraction under local anesthesia. The Ramsay sedation effect, Houpt behavioral score and incidence of adverse reactions were evaluated after the operation.
Results:
The Ramsay sedation scale score was significantly higher in the combination group (2.75 ± 0.55) than in the N2O group (2.30 ± 0.47) and the midazolam group (2.40 ± 0.50) (P <0.05). Similarly, the Houpt behavioral rating scale score was significantly higher in the combination group (5.25 ± 0.64) than in the N2O group (4.70 ± 0.73) and the midazolam group (4.80 ± 0.69) (P <0.05). The adverse reaction rate was lower in the combination group (5%) than in the N2O group (10%) and the midazolam group (10%), but the difference was not significant (χ2=0.436, p=0.804).
Conclusion
N2O inhalation combined with oral midazolam sedation in the extraction of impacted supernumerary teeth in children can significantly improve the sedative and therapeutic efficacy and is a safe and effective sedation method.
5. Naked cuticle homolog 2 positively regulates the osteogenic differentiation of rat dental follicle cells
Yuluan HOU ; Junqi LING ; Chanchan CHEN ; Jingjing QUAN ; Yu DU
Chinese Journal of Stomatology 2017;52(7):432-438
Objective:
To examine the expression of naked cuticle homolog 2 (Nkd2) in the process of root development and osteogenic differentiation of dental follicle cells of rat (rDFC), in order to explore the molecular mechanisms of Nkd2 on the osteoblast differentiation of rDFCs.
Methods:
Immunohistochemical analysis was used to detect the expression of Nkd2 in the base dental follicle of the mandibular first molar of rat at 1, 3, 5, 7, 9, 11 and 13 days postnatal. Mineralization nodule formation of rDFCs was detected by alizarin red staining and cetylpyridine. The change of Nkd2 during osteogenic differentiation of rDFCs was evaluated by Western blotting and the associations between Nkd2 and osteogenic cytokines of alkaline phosphatase (ALP), Runt-related transcription factor-2 (RUNX2) and osteocalcin (OCN) were examined. The rDFCs were transfected with small interfering RNA (siRNA) to knock down the expression of Nkd2 and Western blotting and quantitative real-time PCR (qPCR) were adopted to explore the effects of Nkd2 on osteogenic differentiation by detecting variations of Nkd2 and osteogenic factors ALP, RUNX2, OCN among silencing group (Si), negative control RNA group (Nc) and mock control group (Mock), respectively.
Results:
The expression of Nkd2 in the base dental follicle of the mandibular first molar of rat was time dependent. Mineralization nodules of rDFCs and absorbance of cetylpyridine after osteogenic induction increased gradually (the absorbances of cetylpyridine were 0 week: 0.017±0.005, 1 week: 0.702±0.044, 2 weeks: 1.812±0.531, 3 weeks: 2.767±0.253, respectively). Results of Western blotting showed that Nkd2 (1.60±0.23) of mineralization group was significantly higher than that of control group (1) (
6.Erratum: Author correction to 'Design, synthesis and biological evaluation of chalcone analogues with novel dual antioxidant mechanisms as potential anti-ischemic stroke agents' Acta Pharmaceutica Sinica B 9 (2019) 335-350.
Jiabing WANG ; Lili HUANG ; Chanchan CHEN ; Ge LI ; Jingwen XIE ; Mengya SHEN ; Qian CHEN ; Wulan LI ; Wenfei HE ; Peihong QIU ; Jianzhang WU
Acta Pharmaceutica Sinica B 2022;12(8):3451-3452
[This corrects the article DOI: 10.1016/j.apsb.2019.01.003.].
7.Design, synthesis and biological evaluation of chalcone analogues with novel dual antioxidant mechanisms as potential anti-ischemic stroke agents.
Jiabing WANG ; Lili HUANG ; Chanchan CHENG ; Ge LI ; Jingwen XIE ; Mengya SHEN ; Qian CHEN ; Wulan LI ; Wenfei HE ; Peihong QIU ; Jianzhang WU
Acta Pharmaceutica Sinica B 2019;9(2):335-350
Scavenging reactive oxygen species (ROS) by antioxidants is the important therapy to cerebral ischemia-reperfusion injury (CIRI) in stroke. The antioxidant with novel dual-antioxidant mechanism of directly scavenging ROS and indirectly through antioxidant pathway activation may be a promising CIRI therapeutic strategy. In our study, a series of chalcone analogues were designed and synthesized, and multiple potential chalcone analogues with dual antioxidant mechanisms were screened. Among these compounds, the most active not only conferred cytoprotection of HO-induced oxidative damage in PC12 cells through scavenging free radicals directly and activating NRF2/ARE antioxidant pathway at the same time, but also played an important role against ischemia/reperfusion-related brain injury in animals. More importantly, in comparison with mono-antioxidant mechanism compounds, exhibited higher cytoprotective and neuroprotective potential and Overall, our findings showed compound could emerge as a promising anti-ischemic stroke drug candidate and provided novel dual-antioxidant mechanism strategies and concepts for oxidative stress-related diseases treatment.