Objective To study the correlation of 5 polymorphisms of Han Chinese patients in Sichuan Province with age-related macular degeneration (AMD). Methods The blood samples from 384 Han Chinese patients diagnosed with AMD and another 384 matched controls were collected using case-control study method. The chosen gene single nucleotide polymorphisms (SNPs) were genotyped by SnaPShot classify technology in the patients with AMD and 384 controls of Chinese Han population. Results All of the 5 genetype frequencies of the SNPs were in accordance with Hardy-Weinberg Equilibrium (P > 0.05). There were no statistically significantdifferences between the AMD group and the control group in the rs13117504 G allele frequency (P = 0.037, OR=1.24, 95%CI:1.01~1.53), the rs10033900 C allele frequency (P=0.023, OR=1.27, 95%CI: 1.03 ~1.57) and the rs1003390 frequency in the AMD dominant model (P = 0.039, OR = 0.74, 95%CI: 0.55 ~ 0.99). There were no statistically significant differences between the groups in the rs6822976 A allele frequencies (P =0.158), the rs7438961 G allele frequencies (P = 0.798) and, the rs7671905 T allele frequency (P = 0.909). The rs10033900 in the recessive model of AMD had no significant difference as compared to that in the control group (P = 0.107). The two groups showed no significant differences in both the dominant and recessive model of AMD in terms of the frequencies of rs13117504, rs6822976, rs7438961 and rs7671905 (P > 0.05). Conclusion The rs13117504 and rs10033900 of SNPs near CFI gene upstream has significant association with age-related macular degeneration , while the rs6822976 , rs7438961 , rs7671905 of SNPs have no significant correlations with age-related macular degeneration in Han Chinese population.

Objective To investigate the expression of parathyroid hormone/parathyroid hormone relative protein (PTH/PTHrP) receptor of osteoblast in hemodialysis patients and the effects of calcium channel blocker(CCB) and calcitriol on it. Methods Twenty-one patients on HD were randomly divided into three groups. Six patients were treated with CCB for 8 weeks. Seven patients were given calcitriol for 8 weeks. The rest 8 cases did not take either CCB or calcitriol. Five healthy people were selected as control group. The serum levels of iPTH, BUN, Scr, calcium and phosphorus were measured. The osteoblast was prepared from cultured bone marrow. PTH receptor mRNA expression was detected by semi-quantitive RT-PCR. Results The level of PTH/PTHrP receptor mRNA decreased significantly in patients on HD as compared with control group, and increased in patients with CCB. In calcitriol treated group, and PTH/PTHrP receptor was obviously down-regulated with larger dose of calcitriol(0. 75?g/d), and up-regulated with low dose(0. 25?g/d) . Conclusion Expression of PTH/PTHrP receptor down-regulates in osteoblast of HD patients. CCB can up-regulate the expression of PTH/PTHrP receptor. A large dose of calcitriol may decrease iPTH level and down-regulate PTH/PTHrP receptor expression.

Retinitis pigmentosa (RP) is a group of inherited disorders which involve photoreceptors of the retina and can lead to visual loss. The genetic and clinical phenotypes of RP feature high heterogeneity. RP can be divided into nonsyndromic and syndromic types, both may feature autosomal dominant, autosomal reccesive and X-linked inheritance. So far, many genes have been identified, most of which are expressed in the photoreceptors or retinal pigment epithelium. Sixty-three genes have been identified in nonsyndromic RP. This paper reviews recent progress in the research of the genetics of RP.
Genes, X-Linked ; Humans ; Proteins ; genetics ; Retinitis Pigmentosa ; genetics

Objective To explore the epidemic characteristics,clinical features and treatment outcome of brucellosis in the Dali area of Yunnan province.Methods The clinical data of 43 cases with brucellosis from Janurany 2012 to September 2015 were retrospectively analyzed.Results Among 43 cases,there were 35 males,8 females, 37 farmers,5 veterinary,and 1 teacher.42 patients had a clear history of contact with cattle and sheep,1 case of no clear history of exposure to cattle and sheep,mainly fever,accompanied by chills,headache,joint pain,low back pain, weight loss,hepatosplenomegaly etc.Laboratory routine examination showed no specificity,SAT was detected in 30 cases,positive rate was 100.0%,blood culture in 28 cases,23 cases were positive,the positive rate was 82.1%. 41 cases of adult patients with rifampicin and tetracycline or doxycycline + levofloxacin and cefotaxime drugs combined therapy,treatment for 6 weeks,2 cases of children took rifampicin and SMZ -TMP treatment for 6 weeks, improvement rate was 100%,there was no recurrence and death cases.Conclusion Dali area is popular in brucellosis, the clinical manifestations and the infection way diversification,need the attention of the clinicians.

OBJECTIVE To examine the feasibility of PCR amplification of 16S-23S rDNA intergenic spacer regions of bacteria in trauma infection by a pair of universal primers for gene diagnosis.METHODS The universal primers were designed at conserved regions of the 3' end of 16S rDNA and the 5' end of 23S rDNA.Bacterial genomic DNA from selected five commom bacteria in trauma infection were amplified by PCR.PCR products were examined using electrophoresis in agarose gel,and futher analyzed by sequencing.RESULTS The PCR products were similar to that we expected on the gel,which were confirmed by the results of sequencing and alignment.CONCLUSIONS Using the universal primers,16S-23S rDNA intergenic spacer regions of bacteria in trauma infection could be amplified by PCR,which lays a solid foundation for gene diagnosis in farther studies.

INTRODUCTIONRetinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the disease-causing mutation, and then to describe the phenotypic presentation of this family.

MATERIALS AND METHODSOphthalmic examination was performed on 46 family members to identify affected individuals and to characterise the disease phenotype. Family pedigree was obtained. Some family members also had fundus photographs, fluorescein angiography, and/or optical coherence tomography (OCT) analysis performed. Genetic linkage was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for autosomal dominant RP. Finally, DNA sequencing was performed to identify the mutation present in this family.

RESULTSClinical features included nyctalopia, constriction of visual fields and eventual loss of central vision. Sequence analysis revealed a G-to-T nucleotide change in the Rhodopsin gene, predicting a Gly-51-Val substitution.

CONCLUSIONSThis large multi-generation family demonstrates the phenotypic variability of a previously identified autosomal dominant mutation of the Rhodopsin gene.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Genes, Dominant ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Retinitis Pigmentosa ; genetics ; Rhodopsin ; genetics

Objective To screen the pathogenic locus and gene in a primary open angle glaucoma(POAG),and to provide a basis for molecular genetic study of POAG.Methods A POAG pedigree with 35 members was diagnosed in Sichuan peoples' Hospital from January to August 2005.The disease history and clinical data were collected.Genome-wide scan was performed for the families.Specific software was used to calculate the LOD value,which based on the allele (haploid) typing result with two-point method to definite the positive loci by the largest LOD value.Results The POAG family had 35 members of 4 generations.18 patients were diagnosed as juvenile open angle glaucoma from visual disc shape abnormality and loss of typical visual field.All of the patients in this family suffered various degrees of binocular vision loss and vision loss in childhood,with poorly visual function.The LOD values of 3 short tandom repeat (STR) markers on chromosome 2 were greater than 3.0,they were D2S2369 (LOD value 4.0033),D2S2332 (LOD value 3.8402) and D2S337 (LOD value 4.7520).There was a genetic linkage near the three genetic markers in the family.The primary glaucoma positive locus was a in chromosome p15 to chromosome p16.2,and the genetic distance was about 9 Mb,locating in between the markers D2S2369 and D2S2397.Conclusions GLCIH is a pathogenic locus for this POAG pedigree,which supplies an evidence for elucidating the pathogenesis of POAG.

Objective To investigate the changes of postprandial serum insulin and C-peptide concentration of type 2diabetes mellitus (T2DM) patients with different fasting blood glucose concentrations, and to study the islet function of them.Methods There were 492T2DM patients from January 2016to June 2017in our hospital were selected and divided into three groups according to different fasting plasma glucose (FPG) levels:group A, 7.0mmol/L≤FPG＜11.1mmol/L;group B, 11.1mmol/L≤FPG＜14.0mmol/L;group C, FPG≥14.0mmol/L.Meanwhile, 50healthy examinees were collected as the control group.A standard 75g OGTT were performed in 492T2DM patients and 50healthy controls, and 2mL of venous blood of them were collected at 0.5, 1.0, 2.0and 3.0h.The concentration of insulin and C-peptide at each point was measured by chemiluminescence method, and then compared with the control group.Results The concentration of insulin and C-peptide in T2DM patients were slightly higher than those in the control group, but there was no statistical significance (P＞0.05).The serum insulin and C-peptide post-meal in the A, B and C groups and control group increased, but the 1.0hpostprandial blood glucose of control group increased to a peak, and gradually returned to normal at 3.0h;the 2.0hpostprandial blood glucose of A, B and C groups increased to a peak, and decreased at 3.0h, but did not return to normal level.The concentrations of insulin and C-peptide in the A, B and C groups at 0.5, 1.0, and 2.0hpost-meal were significantly lower than those in the control group (P＜0.05).Conclusion The function of isletβcells in T2DM patients decreases with the increase of blood glucose.The determination of insulin and C-peptide can provide a scientific evidence for judging the severity of disease and guiding treatment.

OBJECTIVETo detect potential mutations of fibrillin-1 (FBN1) gene in a child with Marfan syndrome (MFS) and explore its molecular pathogenesis.

METHODSThe 66 exons of the FBN1 gene were analyzed by direct sequencing. SIFT and PolyPhen-2 were used to predict the structural and functional changes at the protein level.

RESULTSA novel heterozygous mutation c.3998 G>A (p.Cys1333Tyr) was found in exon 32 in the child. The same mutation was not found among his unaffected family members and 683 healthy controls. Multiple sequence alignment showed that this novel mutation was located in a highly conserved region of the FBN1 protein across various species and may induce structural change to a functional domain.

CONCLUSIONThe novel c.3998G>A (p.Cys1333Tyr) mutation of the FBN1 gene probably predisposed the MFS in the child. Above finding has enriched the spectrum of FBN1 mutations.

Objective To explore the rare nonsynonymous variants of ABCA1 gene in primary open angle glaucoma (POAG).Methods A prospective cohort study was carried out.Three hundred and ninety-eight POAG patients and 198 healthy controls matched in age and gender were recruited from March 2017 to March 2018 in Eye and Ear Nose Throat (ENT) Hospital of Fudan University.The periphery blood of 2-5 ml from all the subjects was collected for extraction of DNA,and rare variant analysis of the ABCA1 gene was conducted by whole exome sequencing (WES) data of these subjects.The study protocol was approved by Ethic Committee of Eye and Ear Nose Throat Hospital of Fudan University and Sichuan Provincial People's Hospital (No.2016-32-1,and written informed consent was obtained from each subject prior to entering the study cohort.Results A total of 21 rare nonsynonymous variants (minor allele frequency MAF＜0.O1) were detected in the coding regions of ABCA1 gene in 27 subjects of the 398 POAG,with the detection rate of 6.8％.Among them,c.4310C＞A (p.Thr1437Asn),c.3772G＞T(p.Asp1258Tyr),c.775A＞G (p.Lys259Glu) and c.1507_1508insGAGGT (p.Glu503GlyfsX7) were four novel variants.In the 198 healthy controls,five rare nonsynonymous variants were detected in the ABCA1 gene from five subjects respectively,with the detection rate of 2.5％,the detection rate of nonsynonymous in POAG group was higher than that in healthy control group,showing a significant difference (x2=4.72,P =0.03,OR =2.81).Conclusions Rare nonsynonymous variants in ABCA1 is associated with the pathogenesis of POAG.These variants can enrich the variation spectrum of ABCA1.