Advances in the biological restoration of the hearing / 复旦学报（医学版）

Sensorineural deafness is the most common disorders of senses,which severely impact the life quality and bring heavy burden to the family as well as the society.Current state-of-art treatments focus on sound amplification and implanted electrodes that stimulate the auditory nerve.These strategies offer partial recovery of function for a limited patient population but do not come close to restoring natural hearing.Clearly,there is strong need for development of biological treatments for the hearing restoration through correcting the genetic defects or regenerating the new hair cells on the damaged cochlear sensory epithelium.We reviewed the advances in the biological restoration of the hearing,including the gene therapy and the hair cell regeneration aspects.

Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine / 中国结合医学杂志

<p><b>OBJECTIVE</b>To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions.</p><p><b>METHODS</b>In order to locate the two GS mutations, samples were collected from 11 people from two different pedigrees for direct genetic sequencing and comparison of the 26 exons of SLC12A3. Furthermore, the change of serum potassium was monitored throughout the therapy and those two probands undertook a sequential superposition of Western medicine (including potassium, Panangin and potassium-sparing diuretics) with CM prescription based on Buyang Huanwu Decoction () and Sijunzi Decoction (). The treatment included three stages, oral potassium chloride for the first 2 weeks (stage 1), potassium-sparing diuretic and Panangin with potassium chloride for the next 2 weeks (stage 2), CM along with the medicine in stage 2 for the final 2 weeks (stage 3).</p><p><b>RESULTS</b>The three mutations occurring in proband 1 from pedigree I were Thr60Met, 965-1_976del13ins12 (small indels mutation) and Ala122Ala (homozygous silent mutation). Likewise, three mutations, Asn359Lys, Thr382Met and Arg913Gln, appeared in the proband 2 from pedigree II. The serum potassium levels increasing from baseline to sequential stages were 1.63 mmol/L (baseline), 2.5 mmol/L (stage 1), 3.1 mmol/L (stage 2) and 3.9 mmol/L (stage 3) in the proband 1, and 2.8 mmol/L (baseline), 3.1 mmol/L (stage 1), 3.5 mmol/L (stage 2) and 4.3 mmol/L (stage 3) in the proband 2, respectively. The symptoms (numbness of limbs, weakness, palpitations, etc.) of both probands were all alleviated.</p><p><b>CONCLUSIONS</b>The mutations of both GS pedigrees can be defined as compound heterozygous mutations, most of which are known as missense mutations. Applying CM could be an appropriate choice for future intervention of GS.</p>

Research Advances in Pituitary Adenoma and DNA Methylation / 中国医学科学院学报

DNA methylation is closely related to the genesis and development of pituitary adenoma. Studies have shown that high methylation in the promoter region of potassium voltage-gated chanel,shaker related subfamily,beta member 2,O-6-methylguanine-DNA methyltransferase,echinoderm microtubule associated protein like 2 ,ras homolog family member D ,homeobox B1 ,NNAT, and P16 inhibits the expression of these genes and regulates of the proliferation of pituitary adenoma. DNA methylation is also closely related to invasive pituitary adenoma. Therefore,further study on molecular mechanism of DNA methylation of pituitary adenoma will offer a new strategy for the diagnosis and treatment of pituitary adenoma.

Progress in study of selective ERβ ligands / 药学学报

Estrogen receptors (ERs) are members of nuclear receptors and related to several diseases such as cancer, inflammation and osteoporosis. ERs have two forms, ERα and ERβ, which have different functions and organism distributions. Compounds selectively targeting ERβ can regulate important physiological functions and avoid the side effects caused by targeting ERα. Therefore, selective ERβ ligands have received considerable research interest in recent years. In this article, different kinds of selective ERβ ligands were summarized and their structure-activity relationships were also analyzed.

Effect of Chinese drugs for Pi strengthening Shen benefiting on the immunity function of HIV patients' specific T cells / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To explore the effect of Chinese drugs for Pi strengthening Shen benefiting (CDPSSB) on the immunity function of HIV/AIDS patients' specific T cells.</p><p><b>METHODS</b>Totally 20 patients were randomly recruited from the treated group [treated by CDPSSB combined highly active anti-retroviral therapy (HAART)] and 23 patients were randomly recruited from the control group (treated by HAART alone). All patients were follow-up infected persons form You'an Hospital between from June 2010 to June 2012. CD4+ T absolute counts and HIV viral load were detected. Meanwhile, HIV whole gene overlapping peptides were used as stimulating antigen. The response intensity of HIV specific T cells was detected in the two groups.</p><p><b>RESULTS</b>There was no statistical difference in CD4 T absolute counts or HIV viral load between the two groups (P > 0.05). The response intensity of HIV specific T cells was significantly enhanced in the treated group, when compared with the control group (P < 0.05). Along with elongation of treatment time (6, 12, 18, and 24 months) in the treated group, the response intensity of HIV specific T cells showed enhancing tendency, but there was no statistical difference among these time points (P > 0.05).</p><p><b>CONCLUSION</b>CDPSSB could enhance improve the immunity function of HIV specific T cells, which might be one of its mechanisms.</p>

Types of primary cyclins expressed in gastric carcinoma and their relationship with clinicopathological features / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To characterize the human primary cyclins (D1, E, A, B1) expressed in gastric carcinoma, and to clarify the relationship between the types of expressed primary cyclins and clinicopathological features of gastric carcinoma.</p><p><b>METHODS</b>Primary cyclins (D1, E, A, B1) expressed in single cells separated from 68 cases gastric carcinoma tissues were analyzed by flow cytometry. We classified the gastric carcinomas by different types of the expressed primary cyclins, and explore the roles of primary cyclins expressed in cell cycle and the expression patterns of the cyclins. The results were analyzed together with clinicopathological features.</p><p><b>RESULTS</b>The patterns of expressed primary cyclins could be classified into five types. The proportion was 10.3% (7/68), 22.1% (15/68), 25.0% (17/68), 29.4% (20/68), and 13.2% (9/68), respectively, from type I to type V. Each type could be, according to the degree of in-cycle cyclins expressed, divided into different sub-types. The types of primary cyclins expressed were strongly linked to invasive depth and lymph node metastasis of the gastric carcinoma (P < 0.01). The rates of lymph node metastasis were 26.6%, 43.8%, 82.3%, 95.0%, and 100.0%, respectively, from type I to type V. The type of primary cyclins expressed was also significantly associated with disease stage (TNM stage). The proportion of stage IV disease was 0, 6.7%, 17.6%, 25.0% and 55.6%, respectively, from type I to type V. It was shown that there were relationships between the sub-types of primary cyclins expressed and different growth-types, degree of cell differentiation, or, the tumor gross types (P < 0.01).</p><p><b>CONCLUSIONS</b>The types of primary cyclins expression are different in the process of the occurrence, development and metastasis of gastric carcinoma, and are correlated with clinicopathological features of gastric carcinoma.</p>

Progress in study of the structure, catalytic mechanism and inhibitors of aromatase / 药学学报

Aromatase is a key enzyme responsible for in vivo estrogen biosynthesis. Inhibition of the activity of the aromatase has become an alterative way for treatment of breast cancer. In this review, the structure and catalytic mechanism of the aromatase is briefly introduced followed by thorough review of the progress in the study of the steroidal and non-steroidal aromatase inhibitors. This review is focused on the natural compounds that exhibit the aromatase inhibition, which include flavonoids, xanthones, coumarins, and sesquiterpenes. The structure-activity relationship of these compounds is also discussed.

Cross-linking mechanism of the matrix of hydrogel patch / 药学学报

In this study, we prepared various matrices of hydrogel patches and studied their cross-linking mechanism by observing their rheological properties, which could provide theoretical basis and deep technical support for further industrial development of hydrogel patch. Rheology method was used to do the amplitude scanning and single-frequency scanning for various hydrogel matrix, under the condition of oscillation mode of the rheometer. Then the linear viscoelastic region, composite modulus value, as well as changes in slope with time of the composite modulus and phase angle of various hydrogel matrix were analyzed in detail. The results showed that the stability of matrix was mainly determined by hydrogel frame; only in acidic environment, the cross-linking reaction between cross-linker and hydrogel frame can occur; elasticity of matrix can be decreased by organic acid and the effect level was related to the ratio of the number of carboxyl and hydroxyl (-COO(-)/-OH) in adjusters: if the ratio was not equal, the higher -COO(-)/-OH in adjusters would be the less elasticity of matrix decreased; the cross-linking speed of matrix was determined by adjuster, the cross-linking speed of matrix contain different adjusters was ranged in following order: matrix containing tartaric acid > matrix containing lactic acid > matrix containing malic acid > matrix containing citric acid; the cross-linking speed of matrix was not uniform in the whole cross-linking process.

Ecology survey of Microtus fortis in natural foci of plague in Dingbian town Shaanxi province in 2010 / 中国地方病学杂志

Objective To investigate the constitution,density changes and carrier rate about Yersinia pestis of rodents in plague foci,and to provide the scientific evidence for plague prevention.Methods According to the program of national monitoring plague,two survey procedures,namely quadrat of single-ha for 24 h and 5 m mouse jam,were used to monitor the host animals; culture and identification of Yersinia pestis in liver or spleen of the experimental animals was carried out by using self-made medium in the north of Beiyuanzi village in Dingbian town Shaanxi province.Results One hundred twelve rodents were captured using the first procedures and the rodent average density was 8.62 ind./hm2 and six species of rodents were found namely Meriones unguiculatus ( 100 individuals),Microtusfortis(5 individuals),Ochotona daurica(3 individuals),Meriones meridianus (2 individuals),Mus musculus Linnaeus (1 individual) and Cricetulus barabensis (1 individual).One hundred seventy-three field mouses were captured using the second procedures including Mus musculus Linnaeus (136 individuals),Cricetulus barabensis (36 individuals),and Microtus fortis ( 1 individual ).Among them,Microtus fortis was found in the salt marshes in the southern edge of Ordos Plateau steppe in plague area of Dingbian county.Yersinia pestis was not identified in all animals.Conclusions Microtus fortis is found in natural foci of plague in Shaanxi province for the first time,and a new geographic region was found.Its epidemiological significance needs further study.

In vitro evaluation of cytotoxicity and oxidative stress induced by multiwalled carbon nanotubes in murine RAW 264.7 macrophages and human A549 lung cells / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate in vitro cytotoxicity and oxidative stress response induced by multiwalled carbon nanotubes (MWCNTs).</p><p><b>METHODS</b>Cultured macrophages (murine RAW264.7 cells) and alveolar epithelium cells type II (human A549 lung cells) were exposed to the blank control, DNA salt control, and the MWCNTs suspensions at 2.5, 10, 25, and 100 μg/mL for 24 h. Each treatment was evaluated by cell viability, cytotoxicity and oxidative stress.</p><p><b>RESULTS</b>Overall, both cell lines had similar patterns in response to the cytotoxicity and oxidative stress of MWCNTs. DNA salt treatment showed no change compared to the blank control. In both cell lines, significant changes at the doses of 25 and 100 μg/mL treatments were found in cell viabilities, cytotoxicity, and oxidative stress indexes. The reactive oxygen species (ROS) generation was also found to be significantly higher at the dose of 10 μg/mL treatment, whereas no change was seen in most of the indexes. The ROS generation in both cell lines went up in minutes, reached the climax within an hour and faded down after several hours.</p><p><b>CONCLUSION</b>Exposure to MWCNTs resulted in a dose-dependent cytotoxicity in cultured RAW264.7 cells and A549 cells, that was closely correlated to the increased oxidative stress.</p>

Corneal lymphangiogenesis correlates closely with hemangiogenesis after keratoplasty / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To examine the relationship between corneal lymphangiogenesis and hemangiogenesis after keratoplasty.METHODS: Nineteen human corneas were obtained from 19 patients undergoing a second corneal transplantation in Zhongshan Ophthalmic Center in 2005. Blood and lymphatic vessels in human transplanted corneas were identified by lymphatic vessel endothelial receptor(LYVE-1) and platelet endothelial cell adhesion modecule-1(PECAM-1) immunohistochemistry, and double enzyme-histochemistry; then the association of corneal blood vessel counting (BVC) with lymphatic vessel counting (LVC) was examined.RESULTS: Corneal hemangiogenesis was present in 12 cases (63%), and lymphangiogenesis occurred in 5 cases (26%) of human transplanted corneas. In addition, corneal lymphangiogenesis was only present in vascularized corneas. LVC was strongly and positively correlated with BVC(r=0.725;P<0.01).CONCLUSION: Corneal lymphangiogenesis develops after keratoplasty, and strongly associates with hemangiogenesis.

Effects of 1-bromopropane on neurological and hematological changes of female exposed workers / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the health effects of 1-bromopropane (1-BP) on female exposed workers.</p><p><b>METHODS</b>Four 1-BP manufacturing plants were investigated. Workers were interviewed with questionnaire and examined with neurobehavioral core test battery, nerve conduction velocity tests of nervus tibialis and nervus suralis, vibration sensation test, hematological and biochemical tests. Ambient 1-BP concentration was measured with detection tube, and time-weighed average levels of individual workers were estimated with passive samplers.</p><p><b>RESULTS</b>1-BP concentration in the plants ranged from 0 to 402.40 mg/m3 (Geomean 32.19 mg/m3). Time-weighted average exposure levels (TWA-8 h) ranged from 0.35 to 535.19 mg/m3 (Geomean 14.08 mg/m3). Compared with the control group, 1-BP exposed workers showed reduced motor nerve conduction velocity [(44.8 +/- 8.7) m/s] and sensory nerve conduction velocity [(45.5 +/- 4.9) m/s], prolonged distal latency [(7.5 +/- 2.1) ms], reduced toe vibration perception, and altered neurobehavior parameters(POMS vigor, tension, anxiety, confusion) significantly (P < 0.05). As to hematological and biochemical indicators, the exposed workers showed decreased white blood cell count [(5.6 +/- 2.17) x 10(3)/microl], red blood cell count [(3.9 +/- 0.4) x 10(6)/microl], hemoglobin [(121.1 +/- 14.5) g/L] and creatine kinase [(82.0 +/- 27.5) IU/L] (P < 0.05), and increased serum total protein (8.0 +/- 0.5 g/dl), lactate dehydrogenase [(335.2 +/- 356.6) IU/L], thyroid-stimulating hormone [(3.6 +/- 2.3) microIU/ml] and follicle-stimulating hormone levels (18.7 +/- 24.4 mIU/ml) (P < 0.05).</p><p><b>CONCLUSION</b>1-BP exposure may affect peripheral nerves and central nervous system, and lead to abnormal hematological and biomedical indicators.</p>

Exposure to 1-bromopropane causes dose-dependent neurological abnormalities in workers / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To explore the dose-effect relationship between 1-bromopropane (1-BP) exposure and health effects in workers.</p><p><b>METHODS</b>Occupational field investigations were conducted in 1-BP factories. Ambient 1-BP concentrations were detected with detection tube, and the 8 h time-weighted average individual exposure levels (TWA-8 h) were measured by passive sampler. Workers underwent questionnaire survey, neurological examination, nerve conduction velocity examination, vibration sensation test. routine blood test as well as blood biochemical test. According to TWA values or TWA x duration values, workers were divided into three dose groups for dose-effect relationship analysis. USEPA BMDS 2.1 software was applied to calculate 1-BP benchmark dose (BMD) and its 95% lower limit (BMDL).</p><p><b>RESULTS</b>The TWA-8h concentrations ranged from 0.35 to 535.19 mg/m3 (geo-mean 14.08 mg/m3). Dose-dependent analysis showed that the motor nerve distal latency (linear regression coefficient was 0.066 6), vibration sensation of toes (linear regression coefficient were 0.157 2 and 0.193 9), creatine kinase (linear regression coefficient was -1.05) and thyroid stimulating hormone levels (linear regression coefficient was 0.1024) of 1-BP exposed workers changed in a dose-dependent manner (P < 0.05). BMD calculation based on DL as 1-BP toxic effect endpoint showed that TWA-8h of the BMD values and BMDL values were 50.55 mg/m3 and 30.78 mg/m3, respectively.</p><p><b>CONCLUSION</b>1-BP causes dose-dependent changes in tibial nerve DL, vibration sensation, CK and TSH levels.</p>

Risk assessment of nerve conduction velocity in workers exposed to lead / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To explore the dose-effect relationship between lead exposure and nerve conduction velocity, and to assess risk characteristics of nerve conduction velocity induced by lead exposure.</p><p><b>METHODS</b>The external dose, internal dose (blood lead, urine lead) and the conduction velocity of peripheral nerve were examined. The benchmark dose of a population exposed to occupational lead was estimated to develop risk assessment of nerve conduction velocity in worker exposed to lead by use of BMDS (version 1.3.3). The BMDL in terms of blood lead and urine lead was calculated.</p><p><b>RESULTS</b>There was correlation between blood lead and urine lead. The sense nerve conduction velocity was decreased significantly in the group of lead exposure workers (P < 0.05). The BMDLs-05 for median nerve conduct velocity, ulnar nerve conduction velocity, and superficial peroneal nerve conduction velocity in terms of blood lead were 456.99, 332.36 and 468.38 microg/L respectively; the BMDLs-05 in terms of urine lead were 14.1, 9.2 and 13.6 microg/gCr respectively.</p><p><b>CONCLUSION</b>The internal dose is the better index to reflect the level of lead exposure. Blood lead is identified as a specific and sensitive biomarker for sense nerve conduction velocity reduction. Ulnar nerve conduction velocity can be used as highly sensitive biomarkers to screen the high risk population of lead exposure.</p>

Proteomic analysis of differently expressed proteins in human hepatocellular carcinoma cell lines HepG2 with transfecting hepatitis B virus X gene / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hepatitis B virus encoded X protein (HBx) is a trans-activating protein that may be involved in hepatocarcinogenesis, although few natural effectors of HBx that participate in this process have been identified. We screened, by comparative proteomics method, effectors of HBx associated with hepatocarcinogenesis.</p><p><b>METHODS</b>HBx positive and negative HepG2 cells were constructed and expression patterns of cellular proteins were obtained by high resolution, two dimensional electrophoresis. Comprehensive analyses of proteins associated with hepatocellular carcinoma (HCC) were focused on the differently expressed proteins (more than two-fold increase or decrease, P < 0.05) from HBx positive and negative HepG2 cells. For peptide mass fingerprinting, protein spots with different intensity between HBx positive and negative HepG2 cells were directly cut out of gels and processed for matrix assisted, laser desorption/ionization, time of flight mass spectrometry and liquid chromatography-tandem mass spectrometry (LC-ESI-MS/MS) analysis.</p><p><b>RESULTS</b>The mean number of protein spots for HBx negative and HBx positive HepG2 cells were 2095 +/- 137 and 2188 +/- 105, respectively. The analysis of paired cells showed 75 spots with significant differences in expression between HBx negative and HBx positive cells: 37 spots corresponding to 32 different proteins; 25 proteins were upregulated, 7 downregulated. We found 7 proteins not previously reported differentially expressed in HBx positive HepG2 cells. Variations in protein accumulation were confirmed for four (HSP90AB1, BCL2 associated athanogene 2, nucleophosmin and chloride intracellular channel 1) by Western blotting in HBx positive HepG2 cells.</p><p><b>CONCLUSIONS</b>Numerous effectors of HBx that may promote the development of HCC are identified, of which 7 are newly noted in HepG2 cells. Several of these effectors of HBx may help in elucidating the roles of HBx in hepatocarcinogenesis and diagnostics or targets for therapeutic intervention.</p>

The significance of anti-soluble liver antigen/liver-pancreas in diagnosing and typing autoimmune hepatitis / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To study the significance of anti-soluble liver antigen/liver-pancreas (anti-SLA/LP) in diagnosing and typing autoimmune hepatitis (AIH).</p><p><b>METHODS</b>Six thousand patients with abnormal liver functions, who had their autoantibodies checked by immunofluorescent assay (IFA) and immune blotting assay, were reviewed retrospectively.</p><p><b>RESULTS</b>Of these 6000 patients with liver diseases, 84 were diagnosed AIH. Eighteen patients, 0.3% of the 6000, patients with abnormal liver functions, were SLA/LP antibody positive, of which 17 were with AIH-III [2/17 with AIH /primary biliary cirrhosis (PBC) overlap syndrome], and 1 with chronic hepatitis B. Sensitivity and specificity of SLA/LP antibody in diagnosing AIH were 20.2% and 99.7% respectively, and the positive prediction value was 94.44%. The antinuclear antibody (ANA) titer in the AIH-III group was significantly lower than that of the AIH-I group (P < 0.05). The age of patients with anti-SLA/LP was higher (58.8% were over 50 years old) than those without this antibody (52.2% were 30 to 50 years old). There were no significant differences between the type III and type I AIH regarding gender, age, abnormal degree of liver function, PTA, IgG, liver cirrhosis rates and response to immunosuppressive therapy.</p><p><b>CONCLUSION</b>Anti-SLA/LP is highly specific for diagnosing AIH. Comparing the clinical data of type III and type I AIH, we did not find significant differences between the two groups.</p>

Interventricular septum motion abnormalities: unexpected echocardiographic changes of Brugada syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>There remains controversy about whether Brugada syndrome (BS) has structural heart changes. We occasionally noted that a patient with BS had a quite unusual regional wall motion abnormality at the basal segment of the interventricular septum (IVS) during echocardiographic examination. The unexpected finding promoted us to reexamine our patients with BS by echocardiographic interrogation in the present study.</p><p><b>METHODS</b>Patients with BS (n = 11), patients with complete right bundle branch block (RBBB) (n = 11), and control subjects (n = 11) were enrolled in this study. Two-dimensional echocardiography (2DE) was performed to obtain parasternal left ventricular long axis view on which M-mode scanning line was adjusted to be perpendicular to the basal segment of IVS for delineation of the segmental motion curve, with a simultaneously electrocardiographic tracing.</p><p><b>RESULTS</b>2DE revealed a rapid swing motion shifting toward the right ventricle of the IVS basal segment at early systole in 73% (8/11) patients with BS, which was further confirmed on the M-mode curve evidenced by an early systolic notch toward the right ventricle. The position of the notch corresponded to C-point on the mitral motion curve, lasting for (53 +/- 5) ms. There were no similar changes both in patients with RBBB and in the control subjects.</p><p><b>CONCLUSION</b>IVS basal motion abnormalities at early-systolic phase may be the novel finding of BS.</p>

Electrophysiology of cardiocytes in ligament of Marshall of canine / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate electrophysiology of cardiocytes in ligament of Marshall.</p><p><b>METHODS</b>The single cardiocytes obtained from ligament of Marshall were direct observed under inverted microscope. The cardiocyte action potential and current density of I(Na), I(Ca), L, I(to), I(K) and I(K1) were researched by whole-cell patch-clamp techniques.</p><p><b>RESULTS</b>There were two different cardiomyocytes in ligament of Marshall, one was rod shape, the other was short-rectangle shape. The short-rectangle myocyte was short and thick; the rod myocyte was long and thin. The short-rectangle myocyte was more than rod myocyte. The length/width rate of short-rectangle myocyte was less than that of rod myocyte (2.99 +/- 0.95 vs 12.05 +/- 2.41, P < 0.01). The action potential of ligament myocytes was similar to fast responsive cells. The action potential amplitude (APA) and duration (APD) of short-rectangle cells were less than those in rod cells. APA (mV), APD(50) (ms) and APD(90) (ms) were respectively 80.02 +/- 3.68 vs 91.72 +/- 7.56, 69.62 +/- 6.33 vs 83.14 +/- 3.66 and 107.55 +/- 4.25 vs 144.00 +/- 5.15, P < 0.05. The ion current density of I(Na), I(Ca), L, I(to), I(K1) was different between the two kind cells.</p><p><b>CONCLUSIONS</b>There are two different cardiocytes in ligament of Marshall. The action potential and ion current density of I(Na), I(Ca), L, I(to), I(K1) are different between the two kind cardiocytes.</p>

Relationship of variation 3057 G-->A of exon 20 of leptin receptor gene to lipid metabolism and fat distribution of children with obesity / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the relationship of the variation of exon 20 of leptin receptor (LEPR) gene to the lipid metabolism and fat distribution of the children with obesity.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism(RFLP) and polyacrylamide gel electrophoresis were used to analyze the variation of exon 20 of the LEPR gene of the obesity group(72 obesity children) and the control group(60 healthy children). At the same time, all childrens' serum triglyceride(TG),total cholesterol(TC),high density lipoprotein cholesterol(HDL-C), low density lipoprotein cholesterol(LDL-C), height and weight were measured, and their body mass index(BMI) and fat percent(%fat) were calculated.</p><p><b>RESULTS</b>Three genotypes of exon 20 of LEPR gene were detected in this study. Compared with the control, the frequency of gene variation at 3057 nucleotide G-->A transversion was higher(P<0.05). The concentration of serum TG and the BMI and %fat of the A/A genotype obesity children were higher than those of the G/G genotype ones(P<0.01) but the level of serum HDL of the A/A children were lower than that of the G/G children (P<0.01). As to the G/A genotype children, only their serum TG level was higher than that of the G/G genotype ones(P<0.05).</p><p><b>CONCLUSION</b>The above findings indicated there were polymorphisms in the children with obesity, and those polymorphisms might remarkably affect their lipid metabolism and fat distribution.</p>