ABSTRACT
Objective:To study the relationship of Guangxi Zhuang women being infected by HPV16 and suffering from cervical cancer with HLA-DQB1 allele polymorphism.Provide clues for seeking hereditary susceptibility gene or resistant gene of cervical cancer of Guangxi Zhuang women.Methods:Chose the cervical cancer diagnosed female patients and health women 171 cases respectively aged between 25 and 45 of Guangxi as subject investigated(people in the two groups were paired by age ±3 years).Took their samples to extract HPV DNA and human genome DNA.Then detected HLA-DQB1 alleles and HPV genetype applying PCR-SSP and molecular diversion hybrid technology.Finally the data were statistically analyzed.Results:(1)The total infection rate of HPV in 171 cases of cervical cancer patient was 91.22%,in which the high-risk virus accounted for 90.76%,HPV16 was the main pathogenic subtypes(43.58%).(2)The allele carrying rate of HLA-DQB1*04 in the cervical cancer group was higher than the health control group with statistically significant difference(P0.05).(3)The occurrence frequency of HLA-DQB1*04 alleles in HPV16 positive cervical cancer patients was significantly higher than HPV16 negative patients with statistically significant difference(P<0.05).Conclusion:HLA-DQB1*04 alleles are probably the susceptibility genes of cervical cancer of Guangxi Zhuang women;HLA-DQB1*06/09 alleles are probably the protective genes of cervical cancer of Guangxi zhuang women;HLA-DQB1*02/05/07/08 alleles seem irrelevant to hereditary susceptibility of cervical cancer of Guangxi Zhuang women.And Guangxi Zhuang women carried HLA-DQB1*04 alleles are more likely to infect HPV16 that increase the risk of cervical cancer.
ABSTRACT
Aim To investigate the relevance of 5-hydroxytryptamine transporter(SERT)gene polymorphism and chronic obstructive pulmonary disease(COPD).Methods A total of 51 COPD patients and 49 healthy controls were collected.SERT gene polymorphism and mRNA expression in COPD and control groups were assayed by PCR and real-time PCR,respectively.Lung function was evaluated by a forced expiratory volume in 1 second(FEV1),forced vital capacity(FVC)and FEV1/FVC.Results Two allele gene 484 bp and 528 bp were detected.It consisted of three genotypes L/L(528/528),L/S(528/484)and S/S(484/484),and SS genotype was prevalent in control and COPD group;SERT mRNA expression in COPD group was higher than that in the control;L allele in COPD with PAH patients was higher than the control.The age at diagnosis of COPD in LS genotype patients was earlier compared with that in SS genotype patients.Conclusion SERT gene polymorphism is relevant to hereditary susceptibility of COPD,which may play an important role in the development of COPD,especially promoting PAH in advanced stage of COPD.
ABSTRACT
Objective To investigate the distribution of the single nucleotide polymorphism (SNP) of-251 (rs4073) in cytokine interleukin 8 gene promoter region and +781 (rs2227306) in the first intron in Nantong area population, to explore the correlation between the genotypes of these sites and the risk of suffering hepatocellular carcinoma (HCC), and to analyze the interaction between the genotypes and different exposure factors inducing the occurrence of HCC. Methods By using case-control study and restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) technique, the genotypes of IL-8 gene-251 site and+781 site were classified. Results (1) In individuals with-251 heterozygous mutation genotype AT the risk of developing HCC increased (OR=1.99, 95%CI: 1.01-3.85), and in individuals with +781 mutation genotype CT and TT the risk of developing HCC increased (+781 CT genotype, OR=1.78, 95%CI:1.03-3.1; +781 TT genotype, OR=1.36, 95%CI: 1.01-2.62). (2) In individuals with -251 and +781 AT-CT, TT-CT, AT-CC combined genotypes the risk of developing HCC increased (AT-CT combined genotype, OR=2.10,95%CI:1.52-2.9;TT-CT combined genotype, OR=3.33, 95%CI: 1.01-10.50; AT-CC combined genotype, OR=3.67, 95%CI:2.28-5.90). (3)SNP of-251 had positive interactions with drinking, HBV infection and family history of HCC in the occurrence of HCC, while negative interactions existed between SNP of this site and exposure factors, including age, gender and smoking, in the occurrence of HCC. SNP of +781 had positive interactions with drinking and family history of HCC in the occurrence of HCC, while negative interactions existed between SNP of this site and exposure factors, including age, sex, smoking and HBV infection, in the occurrence of HCC. Conclusion Definite correlation exists between SNP of -251,+781 sites in interleukin 8 gene and the risk of the occurrence of HCC in Nantong area population;and there are interactive effects between SNP of -251, +781 sites in interleukin 8 gene and several exposure factors.
ABSTRACT
Retinoblastoma(RB) is the most common infant malignant tumor of eye.It seriously affects the life quality and life span.The rapid development of biological technology allows some new breakthroughs in the basic and clinical researches of RB.Current researches focus on its etiology and pathogenesis,and the ultimate aim is to guide clinical prevention,detection and management.Some literature revealed and summarized the histological source of RB,mutation detection of Rb gene,hereditary clue of RB susceptibility,and gene-therapy of RB.Gene therapy of RB is a new treating approach to RB in recent years,and its development brings a chance for achieving the goal of curing RB and improving patient prognosis.The research progress of RB is reviewed here.
ABSTRACT
INTRODUCCIÓN: la cromomicosis, descrita por Max Rudolph en 1914, es una micosis subcutánea de desarrollo crónico, que se adquiere generalmente a partir de un traumatismo cutáneo y es causada por hongos dematíaceos. En Venezuela se ha reportado en todo el país aunque hay franco predominio en los estados de Lara, Zulia y Falcón. OBJETIVO: establecer algunos factores que pudieran explicar la endemia en la zona rural del estado de Falcón, Venezuela. MÉTODOS: se procedió a la detección in vitro de Cladophialophora carrionii a partir de la vegetación típica de esta región, semiárida, descrita como "bosque xerófilo de espinar". Se realizó además, búsqueda activa de casos clínicos entre los habitantes de la zona, mediante examen directo y cultivo de las escamas obtenidas a partir de lesiones y se trató de establecer, la existencia un factor de susceptibilidad hereditario mediante el cálculo del factor de heredabilidad de Falconer y la metodología de problemas genéticos heredables de Arias. RESULTADOS: se pudo aislar C. carrionii a partir de especies xerófilas abundantes en la zona: Prosopis juliflora; y varias cactáceas. La casuística acumulada, en nuestro estado representa 54,4 % (490/900) de todos los casos reportados en Venezuela, desde 1983 hasta 2005. La mayoría de los pacientes fueron infectados por C. carrionii y refirieron traumas frecuentes con espinas de cactáceas. Mediante estudios genealógicos se demostró la concentración de los casos en grupos familiares (hasta 11 % superior a la comunidad) así como un factor de heredabilidad de 65 % y alta frecuencia de matrimonios consanguíneos (25 %) asociados con 7 % de personas con cromomicosis. CONCLUSIONES: se consideró que se trata de una endemia rural, laboral y familiar, posiblemente relacionada con un factor de susceptibilidad heredable.
INTRODUCTION: chromomycosis, described by Max Rudolph in 1914, is a chronic subcutaneous mycosis that are generally caught from a cutaneous trauma and caused by dematiaceous fungi. This disease has been reported throughout Venezuela, but it is predominant in the states of Lara, Zulia and Falcón. OBJECTIVE: to ascertain some factors that might explain the endemic at Falcon State rural zone. METHODS: in vitro detection of Cladophialophora carrionii from the typical vegetation of this semiarid area known as "xerophilous woods of prickles" and also, active search of clinical cases among inhabitants of this area through direct testing and culture of flakes from skin lesions. It was intended to determine a hereditary susceptibility factor through the estimation of Falconer´s heritability factor and Arias´ methodology of heritable genetic disorders. RESULTS: it was possible to isolate C. carrionii from abundant xerophilous species in the area such as Prosopis juliflora and several Cactaceae. The accumulated casuistry in our state accounts for 54,4% (490/900) of all cases reported in Venezuela from 1983 to 2995. Most of the patients were infected by C. carrionii and they mentioned frequent injures by cactaceae prickles. On the basis of genealogical studies, it was proved that cases were concentrated in family groups (up to 11% higher than in the community) as well as 65% heritability factor and high frequency of blood-related marriages (25%) associated with 7% of people affected by chromomycosis. CONCLUSIONS: it was concluded that this is a rural, work and family endemic that is likely associated with a hereditary susceptibility factor.
ABSTRACT
Objective To investigate the relationships between genetic polymorphism of CYP2A6 alone or in combination with smoking and hereditary susceptibility to bladder cancer.Methods Based on case-control study,CYP2A6*4 was determined by the nested polymerase chianreaction(nPCR)in 186 patients with bladder cancer and 192 nontumorous controls.The relations between the genetypes of CYP2A6*4 alone or combinated with smoking and bladder cancer was estimated with the X2 test and logistic regression model.Results In the case subjects,the number of the wil/wil genetype was 168,the number of the wil/del genetype was 13,and the number of the del/del genetype was 5.In the control subjects,the number of the wil/wil genetype was 150,the number of the wil/del genetype was 32,and the number of the del/del genetype was 10.The frequency of CYP2A6 del allele was significantly lower in the case Subjects(9.68%)than the controls(21.88%,P＜0.05,OR:0.383).When eombinated with smoking,the risk of bladder cancer in smokers was significantly higher than nonsmoker(P＜0.05,OR=2.322).In smokers,the frequency of CYP2A6 del allele was significantly lower in cases(7.88%)than controls(28.00%,P＜0.05,OR=0.221).In smoking people,the one with CYP2A6 del genotype had a lower risk of bladder cancer than the one with CYP2A6 wild genotype(OR=0.221,95%CI:0.092,0.534).Conclusions Genetic polymorphisms of CYP2A6 are associated with the susceptibility to bladder cancer and have interaction with smoking in carcinogenesis of bladder cancer.Deficient CYP2A6 activity to genetic polymorphism mayreduee bladder cancer risk in smokers.
ABSTRACT
Objective To study the relationship between infection and hypokalemic paralysis and its clinical features.Methods A systemic analysis was made on the infection courses,clinical manifestations, serum levels of potassium and creatine phosphokinase,the results of electrophysiological and virological examinations in present 34 patients and 115 cases reported in literature with hypokalemic paralysis.Results There were differences in the clinical manifestations and denominations among the present and reported cases. No definite evidences for virus infections were found among patients who were characterized by acute flaccid paralysis accompanied with hypokalemia in the infection curses. The prognosis of the disorder was better after the patients were given potassium, and most of them didn't recur.Conclusion No enough evidences showed that this disorder was an independent disease.It should be named as "concomitant infectious hypokalemic paralysis" appropriately. It was probably a syndrome accompanied by infection on the base of hereditary susceptibility.