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World Journal of Pediatrics 2019年第6期15卷 610-614页

作者： Wei Wen Meng Guo Hong-bing Peng Li Ma Neonatal screening Center Shenzhen Maternity and Child Healthcare HospitalFuqiang Road 3012Futian DistrictShenzhen 518017China

Background To optimize and apply an approach suitable for large-scale neonatal thalassemia genetic screening in China,thalassemia genotypes were determined by polymerase chain reaction-reverse dot blot using DNA extracted from dried blood spots(DBS)obtained from newborn screening *** Firstly,the most suitable commercial DNA extraction kit for DBS was ***,the appropriate amount of DBS required for the automated high-throughput DNA extraction system was ***,the thalassemia prevalence and genotype spectrum in Shenzhen were investigated in 2028 newborns using the optimized screening *** The Magentec extraction kit was best suited for the automated DBS DNA extraction system using eight 3-mm DBS *** neonatal thalassemia prevalence in Shenzhen was 9.12%;6.31%α-thalassemia,2.37%β-thalassemia,and 0.44%α-/β-*** genetic screening based on DBS can precisely identify the thalassemia ***α-andβ-thalassemia are widely distributed in Shenzhen *** genetic screening is important for establishing a comprehensive thalassemia prevention program and for public education.

关键词： Dried blood spot genetic screening Newborn screening Thalassemia

Utilization of molecular genetic approaches for colorectal cancer screening

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World Journal of Gastroenterology 2024年第46期30卷 4950-4957页

作者： Marina A Emelyanova Anna Y Ikonnikova Center for Precision Genome Editing and genetic Technologies for Biomedicine Engelhardt Institute of Molecular BiologyRussian Academy of SciencesMoscow 119991Russia

The feasibility of population screening for colorectal cancer has been demonstrated in several *** of these studies have considered individual characteristics,diagnostic approaches,epidemiological data,and socioeconomic *** this article,we comment on an editorial by Metaxas et al published in the recent issue of the *** authors emphasized the need to raise public awareness through health education programs and the possibility of using easily accessible non-invasive screening ***,we focus on non-invasive molecular genetic approaches that can aid in colorectal cancer *** the one hand,we highlighted the use of tumor DNA/RNA markers directly for screening and,on the other hand,underline the use of polygenic risk assessment and hereditary predisposition to select individuals for more thorough cancer screening.

关键词： Colorectal cancer Cancer screening Non-invasive screening Liquid biopsy Polygenic risk score

Large-Scale Forward genetic screening Analysis of Development of Hematopoiesis in Zebrafish

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Journal of genetics and Genomics 2012年第9期39卷 473-480页

作者： Kun Wang Zhibin Huang Lingfeng Zhao Wei Liu Xiaohui Chen Ping Meng Qing Lin Yali Chi Mengchang Xu Ning Ma Yiyue Zhang Wenqing Zhang Key Laboratory of Zebrafish Modeling and Drug screening for Human Diseases of Guangdong Higher Education Institutes Department of Cell Biology School of Basic Medical Sciences Southern Medical University Guangzhou 510515 China

Zebrafish is a powerful model for the investigation of *** order to isolate novel mutants with hematopoietic defects, large-scale mutagenesis screening of zebrafish was *** scoring specific hematopoietic markers,52 mutants were identified and then classified into four types based on specific phenotypic *** mutant represented a putative mutation of a gene regulating the relevant aspect of hematopoiesis,including early macrophage development,early granulopoiesis,embryonic myelopoiesis,and definitive erythropoiesis/*** method should be applicable for other types of genetic screening in *** addition,further study of the mutants we identified may help to unveil the molecular basis of hematopoiesis.

关键词： Zebrafish Large-scale screening Hematopoiesis

Fasting produces antidepressant-like effects via activating mammalian target of rapamycin complex 1 signaling pathway in ovariectomized mice

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Neural Regeneration Research 2023年第9期18卷 2075-2081页

作者： Zi-Qian Cheng Jie Fan Fang-Yi Zhao Jing-Yun Su Qi-Han Sun Ran-Ji Cui Bing-Jin Li Jilin Provincial Key Laboratory on Molecular and Chemical genetic The Second Hospital of Jilin UniversityChangchunJilin ProvinceChina Jilin Engineering Laboratory for screening of Antidepressant ChangchunJilin ProvinceChina

Recent studies have shown that a 9-hour fast in mice reduces the amount of time spent immobile in the forced swimming *** r,whether 9-hour fasting has therapeutic effects in female mice with depressive symptoms has not been ***,in this study,we simulated perimenopausal depression via an ovariectomy in mice,and subjected them to a single 9-hour fasting 7 days *** found that the ovariectomy increased the time spent immobile in the forced swimming test,inhibited expression of the mammalian target of rapamycin complex 1 signaling pathway in the hippocampus and prefro ntal cortex,and decreased the density of dendritic spines in the *** 9-hour acute fasting alleviated the above-mentioned ***,all of the antidepressant-like effects of 9-hour fasting were reve rsed by an inhibitor of the mammalian to rget of rapamycin complex *** data showed a remarkable increase in long-term potentiation in the hippocampal CA1 of the ovariectomized mice subjected to fasting compared with the findings in the ovariectomized mice not subjected to *** findings show that the antidepressant-like effects of 9-hour fasting may be related to the activation of the mammalian target of the rapamycin complex 1 signaling pathway and synaptic plasticity in the mammalian ***,fasting may be a potential treatment for depression.

关键词： antidepressant brain-derived neurotrophic factor dendritic spine fasting hippocampus LTP mTOR complex 1 neural plasticity ovariectomized mice rapamycin

An overview of chronic myeloid leukemia and its animal models

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Science China(Life Sciences) 2015年第12期58卷 1202-1208页

作者： MA WeiXu MA Ning CHEN XiaoHui ZHANG YiYue ZHANG WenQing Key Laboratory of Zebrafish Modeling and Drug screening for Human Diseases of Guangdong Higher Education Institutes Department of Developmental Biology Institute of Genetic Engineering School of Basic Medical Sciences Southern Medical University

Chronic myeloid leukemia(CML) is a form of leukemia characterized by the presence of clonal bone marrow stem cells with the proliferation of mature granulocytes(neutrophils, eosinophils, and basophils) and their precursors. CML is a type of myeloproliferative disease associated with a characteristic chromosomal translocation called the Philadelphia(Ph) chromosome or t(9;22) translocation(BCR-ABL). CML is now usually treated with targeted drugs called tyrosine kinase inhibitors(TKIs). The mechanism and natural history of CML is still unclear. Here, we summarize the present CML animal disease models and compare them with each other. Meanwhile, we propose that it is a very wise choice to establish zebrafish(Danio rerio) CML model mimics clinical CML. This model could be used to learn more about the mechanism of CML, and to aid in the development of new drugs to treat CML.

关键词： chronic myeloid leukemia(CML) animal disease model zebrafish

20 Years Experience in Neonatal screening in Hong Kong

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20 Years Experience in Neonatal Screening in Hong Kong

Enteropathic spondyloarthropathy:A common genetic background with inflammatory bowel disease?

第五届亚太地区新生儿筛查学术交流会

作者： Weile Hau Stephen TS Lam genetic screening unit Clinical Genetic Service Department of Health HKSAR Cheung Sha Wan Jockey Club Clinic Shamshuipo Hong Kong. genetic screening unit Clinical Genetic Service Department of Health HKSAR Cheung Sha Wan Jockey Club Clinic Shamshuipo Hong Kong.

＜正＞In Hong Kong, the neonatal screening programme for Congenital Hypothyroidism （CH） and Glucose-6-phosphate Dehydrogenase （G6PD） Deficiency was started since 1984. In 20 years times （from 1984 to 2003）, 751,914 live births （389,820 males and 362,094 females） were screened both CH and G6PD deficiency by means of cord blood. It covered about 99% of newborns delivered in

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World Journal of Gastroenterology 2009年第20期15卷 2456-2462页

作者： Elisabetta Colombo Anna Latiano Orazio Palmieri Fabrizio Bossa Angelo Andriulli Vito Annese unit of Gastroenterology Department of Medical Sciences IRCCS-CSS Hospital Laboratory of genetic Research Department of Medical Sciences IRCCS-CSS Hospital unit of Digestive Endoscopy Department of Medical SciencesIRCCS-CSS Hospital

The association between spondyloarthropathy and in flammatory bowel disease(IBD) is largely established, although prevalence is variable because of different population selection and diagnostic *** studies indicate that as many as 10%15% of cases of IBD are complicated by ankylosing spondylitis(AS) or other forms of spondylarthritis(SpA).Of note, ileal inflammation resembling IBD has been reported in up to two thirds of cases of SpA, and it has been suggested that the presence of ileitis is associated with the chronic ity of articular *** this observation is of interest to unravel the pathophysiology of the disease, systematic screening of patients with SpA by ileocolonos copy is not indicated in the absence of gut symptoms, as only a small proportion of patients with subclinical gut inflammation will develop overt IBD over *** existence of familial clustering of both IBD and AS, the coexistence of both conditions in a patient, the evidence of an increased risk ratio among f irstand seconddegree relatives of affected AS or IBD patients and f inally, the increased crossrisk ratios between AS and IBD, strongly suggest a shared genetic *** far, however, IL23R is the only identified susceptibility gene shared by both IBD and *** functional studies are still needed to better understand its pathogenic role, great ef fort is being spent therapeutically targeting this pathway that may prove effective for both disorders.

关键词： Inflammatory bowel disease Ulcerative colitis Crohn's disease Ankylosing spondlitis Sacroiliitis Spondyloarthropathy

Establishment of Smad2 conditional gene targeting mice based on the Cre-LoxP system

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Science China(Life Sciences) 2002年第2期45卷 129-137页

作者：周江黄培堂程萱黄翠芬孙彦洵杨晓 genetic Laboratory of Development and Diseases Institute of Biotechnology Beijing China

Smads is a new gene family in transforming growth factor-β(TGF-β) signaling pathway. Smad2 mutated in multiple human tumors and may be a candidate tumor suppressor gene. Targeted disruption of murine Smad2 gene resulted in embryonic lethality at E6.5. To study the function of Smad2 in vertebrate organgenesis and tumorigenesis, we constructed the Smad2 conditional targeting vector in which two LoxP sequences were placed to flank the sequences encoding the C terminal functional domain of Smad2. The validity of the LoxP sites in the targeting construct was tested in E. coli that express the Cre recombinase constitutively. The vector was electroporated into ES cells and 3 targeted ES cell clones were obtained by Southern blot screening. Targeted ES cells were introduced into C57BL/6J blastocysts by microinjection to generate germ-line chimeras. Genotyping analysis showed that 2 progeny among these chimeras carried the Smad2 conditional targeted allele. The establishment of Smad2 conditional gene targeting mouse has laid a solid foundation for producing the tissue specific Smad2 gene knockout mice.

关键词： Smad2, embryonic stem cell, Cre-LoxP system, conditional gene knockout.

High affinity mouse-human chimeric Fab against Hepatitis B surface antigen

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World Journal of Gastroenterology 2005年第48期11卷 7569-7578页

作者： Biplab Bose Navin Khanna Subrat K Acharya Subrata Sinha Department of Biochemistry International Center for genetic Engineering and Biotechnology Department of Gastroenterology

AIM： Passive immunotherapy using antibody against hepatitis B surface antigen （HBsAg） has been advocated in certain cases of Hepatitis B infection. We had earlier reported on the cloning and expression of a high affinity scFv derived from a mouse monoclonal （5S） against HBsAg. However this mouse antibody cannot be used for therapeutic purposes as it may elicit anti-mouse immune responses. Chimerization by replacing mouse constant domains with human ones can reduce the immunogenicity of this antibody.METHODS： We cloned the VH and V, genes of this mouse antibody, and fused them with CH1 domain of human IgG1 and C, domain of human kappa chain respectively. These chimeric genes were cloned into a phagemid vector. After initial screening using the phage display system, the chimeric Fab was expressed in soluble form in E. coli.RESULTS： The chimeric Fab was purified from the bacterial periplasmic extract. We characterized the chimeric Fab using several in vitro techniques and it was observed that the chimeric molecule retained the high affinity and specificity of the original mouse monoclonal. This chimeric antibody fragment was further expressed in different strains of E. coli to increase the yield.CONCLUSION： We have generated a mouse-human chimeric Fab against HBsAg without any significant loss in binding and epitope specificity. This chimeric Fab fragment can be further modified to generate a fulllength chimeric antibody for therapeutic uses.

关键词： Chimeric Fab Hepatitis B surface antigen Phage display

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

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World Journal of Pediatrics 2023年第7期19卷 663-673页

作者： Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu Jing-Kun Miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao National Clinical Research Center for Child Health Children's HospitalZhejiang University School of MedicineHangzhouChina Chongqing Health Center for Women and Children Neonatal Screening CenterChongqingChina Guiyang Maternal and Child Health Hospital GuiyangChina University of the Chinese Academy of Science Shenzhen HospitalShenzhen 518000GuangdongChina Shanxi Children's Hospital Shanxi Maternal and Child Health Hospital TaiyuanShanxiChina The Central Laboratory of Birth Defects Prevention and Control Ningbo Women and Children's HospitalNingbo 315012ZhejiangChina Maternal and Child Health Hospital of Ningxia Hui Autonomous Region YinchuanChina Changsha Maternal and Child Health Hospital ChangshaHunanChina Yunnan Maternal and Child Health Hospital KunmingYunanChina Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University JinanShandongChina Urumqi Maternal and Child Health Care Hospital Xinjiang Uygur Autonomous RegionUrumqi CityChina Medical genetic Center Changzhi Maternal and Child Health Care HospitalChangzhiShanxiChina Maternal and Child Health Care Hospital of Shandong Province JinanShandongChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn *** develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening *** We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with *** this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates *** We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were ***-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different *** positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north *** addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after *** percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional *** the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of *** We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS *** data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in di

关键词： Monogenic genetic diseases Newborn screening Next-generation sequencing Monogenic genetic diseases Regional features