To aim at the component elements in medical genetics teaching,a novel teach-ing method which introduced scientific thought was utilized.This method can promote students to assimilate the medical knowledge,know more about medical frontline information,help to raise the students’independent innovating capability,and elevate the integrative diathesis of students.

Objective To analyse the mutation of pathogenic gene TSC2 in tuberous sclerosis complex (TSC). Methods Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP), all the 41 exons of TSC2 gene were analyzed in 4 TSC cases(include 1 suspect case) from one family and 1 sporadic TSC case ,and compared with the kin familial controls and kinless normal controls. Results Missense mutation on exon33 1346S→P (4037T→C) of TSC2 was found in 4 familial cases, and no mutation of TSC2 gene was found in the sporadic case and all the health controls. Conclusion Missense mutation on exon33 (1346S→P,4037T→C)is a new discovery in TSC2 gene of patients with TSC.

Objective To explore the clinical and molecular biological characteristics of spinocerebellar ataxia type 3(SCA3).Methods Clinical manifestation and brain MRI data of 12 patients with SCA in two families were analyged.The polymorphic CAG repeated time in the encode region of SCA3,SCA1 and SCA7 genes were compared in 15 family numbers without abnormal presentations,and 12 healthy persons of controls.Results Among 27 numbers of 4 generations in the two families had 12 patients,male and female were affected,average onset was 32 years old.The main clinic features included gait ataxia,ambiguity in speech and action clumsiness.Brain MRI showed remarkable atrophy on cerebellum and brain stem.In the two families,the CAG lengths of SCA1 and SCA7 were normal in all numbers.The repeated times of CAG of SCA3 were 11~39 in two control groups,65 ~87 in 10 cases,diagnosed as SCA3 patients.The child Ⅳ2 of family 1 was 8 years old,the repeated times of CAG of SCA3 were repeats 21 and 64 times,repectively.He might be a asymptomatic patient,because he was too young to onset the disease.Conclusions SCA3 is an autosomal dominant genetic disease.The clinical manifestations are ataxia and dysarthria.The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.

Objective To simply the method of how to obtain cultures rich in astrocytes from SD rat cerebral cortex which could be utilized in vitro experiments.Methods The neonatal rat cerebral cortex was made into suspension by mechanical dissociation,and then reduced other cells by differential velocity adherent technique,shaking in orbital shaker and passage of cultured cells.After purification,the cultured cells were identified by double immunofluorescence staining and SABC.Results We successfully obtain cultures rich in astrocytes and the proportion of astrocytes were more than 95%.Conclusion The method described above was reliable in obtaining the high purity astrocytes from neonatal rat cerebral cortex and double immunofluorescence staining was more vivid and direct.

Objective:To screen for peptides that specifically bind to PreS1 antigen from a phage-displayed peptide library.Methods: The PreS1 antigen was used as the target molecule to screen the binding peptide from the Ph.D.-7 peptide library with phage display technique,and the positive clones were identified by ELISA.Results: After three rounds of biopanning,the binding peptides were screened from the peptide library by ELISA and competitive inhibiting ELISA.Sequencing result showed that the binding peptides had high affinity and specificity.Conclusion: A peptide binding PreS1 antigen has been successfully obtained by screening the phage display library,which paves a way for the diagnosis and treatment of hepatitis B infection.

Objective: To investigate the clinical and pathological features of patients with cerebral amyloid angiopathy (CAA) related cerebral hemorrhage (C A AH). Methods : The clinical data of 5 patients with C A AH, including clinical manifestations, neuroimaging and topographical anatomy features were studied. Results: It was found that the onset and clinical manifestations of CAAH resembled hypertensive cerebral hemorrhage. CAAH could coexist with hypertension and hypertension might aggravate the pathological changes of CAA. Typical CAAH located in cortical and subcortical areas, but cerebral hemorrhage located in the basal ganglia and thalamus could not ruled out CAAH without the pathological confirmation of CAA. The neuroimages of some specific types of cerebral hemorrhage, such as insular cistern hematoma and subarachnoid hemorrhage, could manifest as hypertonial putaminal hemorrhage, but their outcomes were distinctly different. Conclusion: The causes of cerebral hemorrhage include hypertension and cerebral amyloid angiopathy, and CAA may have an important clinical value.

Objective:To study the effect of Mg 2+ on glutamate and energy metabolites during focal cerebral ischemia and reperfusion in rats. Methods: Twelve male Wistar rats were divided into 2 groups(n=6):magnesium sulfate(100 mg/kg, i.p.) group and saline group.Cerebral ischemia was produced by occlusion of middle cerebral artery with a nylon thread for 60 min and followed by 60 min reperfusion.Microdialysis probes were stereotaxically implanted into the cortex; dialysates were collected every 15 min to determine the concentrations of glucose, lactic acid and glutamate. Results: There was a dynamic decrease of glucose and an increase of lactic acid and glutamate during ischemia and reperfusion in saline group.Glucose decreased slightly in magnesium sulfate group during ischemia and recovered to normal rapidly during reperfusion. The lactic acid levels in magnesium sulfate group were lower than that in saline group during early stage of ischemia(0-15 min) and reperfusion.There were significant attenuation in the elevation of glutamate during ischemia and reperfusion when magnesium sulfate was administered and recovered to normal after 30 min of reperfusion. Conclusion: The preservation of cellular energy metabolism,the decrease of lactacidosis and attenuation of glutamate level during ischemia and reperfusion may contribute to the neuroprotective effects of Mg 2+ .

Objective To investigate drug metabolism distribution of flurbiprofen axetil(FA) in uterine fibroids and its effect on prostaglandin E2 (PGE2).Methods A total of 86 patients with uterine fibroids from January 2014 to February 2016 in The NO.2 Hospital of Ningbo were randomly divided into control group of 44 cases and observation group of 42 cases.The control group and the observation group were given 0.9% sodium chloride solution and 1 mg/kg FA at 15 min before operation,detection of the active metabolite of FA flurbiprofen (FP),and the concentration of PGE2 in tissue homogenate was detected by ELISA.Results The observation group FP concentration of normal and tumor tissue were (0.70 ±0.13)μg/mL and (1.72 ± 0.13)μg/mL,significantly higher than the control group(0.00 ±0.00)μg/mL and (0.00 ±0.00)μg/mL, the difference was statistically significant(P<0.05), the FP concentration of tumor tissue in the observation group was significantly higher than that in the normal group, the difference was statistically significant(P<0.05), the normal tissue and tumor tissue PGE2 concentration in the observation group were (189.29 ±26.38) pg/mL and (260.01 ±46.63) pg/mL,which were significantly lower than those in the control group(210.03 ±35.22)pg/mLand(390.20 ±92.10)pg/mL, the difference was statistically significant(P<0.05), the observation group plasma FP was (5.50 ±0.72)μg/mL,significantly higher than the control group (0.00 ±0.00)μg/mL, the difference was statistically significant(P <0.05),and PGE2 was (602.38 ±84.09) pg/mL,significantly lower than the control group(920.13 ±89.05)pg/mL, the difference was statistically significant(P <0.05).Conclusion FA in the uterine fibroids have a certain distribution of targeted,can reduce the concentration of PGE2 ,so as to alleviate the pain of patients.

Objective To analyse distribution of age and gender characteristics of specific IgG(sIgG)antibodies and specific IgE (sIgE)antibodies of 13 types of food allergens in patients with food anaphylaxis,and to explore the relationship between sIgG and sIgE in food anaphylaxis.Methods 314 cases of patients from 2009 to 2012 were selected as subjects,and divided into underage group(1 63 cases)and adult group(1 5 1 cases).Serum sIgG of 13 types of food allergens were detected by using enzyme linked immu-nosorbent assay,serum sIgE of these food allergens were detected by using immune capture.Results 80.25% of the patients were sIgG-positive,and no obvious gender differences were found;while the positive rates of sIgG in the underage group(94.48%)were higher than that in the adult group(64.90%),there were statistically significant differences(P < 0.05 ).34.39% of the patients were sIgE-positive.The positive rates of sIgE in male patients(40.68%)were higher than that in female patients(26.28%),and that in the underage group(55.21%)were also higher than that in the adults group(1 1.92%),there were statistically significant differences(P <0.05).Conclusion The total positive rates and its distribution characteristics of sIgG and sIgE of same food aller-gens were obviously different.Food anaphylaxis might be associated with age,gender,food types and individual diversity.

AIM: To compare the effects between topiramate and slow-release sodium valproate in treating refractory epilepsy. 　METHODS: Topiramate group of 39 patients (M 21, F 18; age 28 a± s 20 a) was compared with sodium valproate group of 41 patients (M 22, F 19; age 27 a±17 a) in antiepileptic effect of refractory epilepsy. Adult's and children's dosages of topiramate were increased gradually about 200 mg*d-1 and 4 mg*kg*d-1 respectively during about 2 mo, po, bid, for 6 mo as a course. Adult's dosage of slow-release sodium valproate was 0.5-1 g*d-1, and children's was increased gradually to total dosage: 15-30 mg*kg*d-1, po, qd or bid (morning or morning and noon), for 6 mo as a course. Effects were analysed between these two drugs after treatment 4 and 6 mo.　RESULTS： Simple and complex partial seizures with or without secondary generalized seizure, in topiramate group were much more improved than these in sodium valproate group 6 mo after treatment. Four patients of topiramate group appeared temporary adverse reactions of central nervous system, such as tiredness, sleepiness and distraction, but one patient of sodium valproate group had severer decreased function of bone marrow.　CONCLUSION: Topiramate is one of effective antiepileptic drugs and superior to slow-release sodium valproate. There are the apparent absence of any effects of topiramate on the bone marrow and on indexes of liver and kidney.