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1.
Morphea is a disorder limited to the skin, characterized by a stable oval plaque with a glossy plane surface that feels indurated on palpation. In contrast, systemic sclerosis is additionally characterized by disseminate cutaneous engrossment, sclerodactyly, the presence of Raynaud''s phenomenon, and internal organ involvement. Human leukocyte antigen (HLA)-DR4 class Ⅱ alleles are associated with morphea in Caucasians, whereas, HLA-DR4 presents as high frequency in Amerindians, besides it was associated with autoimmune disease. The aim of this study was to determine HLA-DR alleles in Mexican patients with morphea. This study recruited 24 morphea patients, whose HLA alleles frequencies were compared with HLA alleles frequencies presented in 22 systemic sclerosis patients and 99 ethnically matched healthy controls. The HLA-DRβ1 locus was genotyped based on the hybridization technique. HLA-DR4 and DR8 frequencies showed increases in morphea patients compared with healthy controls, whereas HLA-DR4 exhibited a statistical association with morphea when allele frequencies were compared with systemic sclerosis patients. Thus, HLA-DRβ1 associations varied in morphea and systemic sclerosis, suggesting the participation of different immunological molecular mechanisms.  相似文献   

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短串联重复序列D7S2201基因座的群体遗传学研究   总被引:8,自引:5,他引:3  
黄代新  张林  吴梅筠  陈国弟  陈于波 《遗传》2001,23(2):107-110
用扩增片段长度多态性技术分析短串联重复序列D7S2201基因座的遗传多态性,在262个中国成都地区汉族无关个体及119个泰国曼谷地区泰人无关个体中分别发现7个和5个等位基因,首次获得该基因座在两群体中的频率分布,其等位基因片段大小范围为100~124bp。两群体的基因型频率分布均符合Hardy Weinberg平衡。该基因座在两群体中的个人识别能力(PD)、杂合度(H)、多态性信息含量(CPI)及非父排除率(PE)分别为0.7038、0.5992、0.4789、0.2900和0.7351、0.5882、0.5012、0.2770。家系调查证实了等位基因的传递遵循孟德尔遗传规律。χ2检验表明两群体间等位基因频率分布无显著性差异。 Abstract:The polymorphism of a new short tandem repeat (STR) locus D7S2201 was analyzed by using AmpFLP. Seven alleles were observed in 262 unrelated Chinese individuals living in Chengdu and five alleles in 119 unrelated Thai individuals living in Bangkok, the ranges of fragment size were 100~124bp. The genotypes distributions of D7S2201 locus in the two populations were in accordance with Hardy Weinberg equilibrium. The discriminating power (PD), observed heterozygosity (H), polymorphism information content (CPI) and power of exclusion (PE) were 0.7038, 05992, 04789, 02900 in Chinese population and 0.7351, 0.5882, 0.5012, 0.2770 in Thai population respectively. Family studies confirmed Mendelian inheritance of alleles. No significant difference was observed between the two populations.  相似文献   

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The ataxin-2 (ATXN2) gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats (Yu et al., 2005: Laffita-Mesa et al., 2012). However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine (polyQ), which causes spinocer-ebellar ataxia type 2 (SCA2) (Pulst et al., 1996). The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset (Pulst et al., 1996). SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging (MRI) (Yamamoto-Watanabe et al., 2010). This disease has the strong effect on sensory and motor control.  相似文献   

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To investigate the relationship between 27 bp repeat polymorphism in intron 4 in the endothelial nitric oxide synthase (eNOS4) gene and essential hypertension in the Kazakh Chinese population, 151 patients with essential hypertension and 138 healthy people were selected from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China in 2006. The polymorphism of eNOS in the two groups was detected with polymerase chain reaction assays and the genotype frequencies in each group were calculated following the Hardy-Weinberg law. Four and five tandem 27 bp repeats were designated as "a" and "b", respectively. It was found that the frequencies of b/b, b/a and a/a genotypes of the eNOS4 gene were 84.06%, 15.22% and 0.72% in the control group, and 81.46%, 15.89% and 2.65% in the hypertension group, respectively. The frequencies of gene "b" and "a" were 91.67% and 8.33% in the control group and 89.40% and 10.60% in the hypertension group, respectively. It was found that plasma eNOS activity was not associated with genotypes and alleles of eNOS gene. Plasma eNOS activity in the hypertension group was significantly decreased compared with the control group (P<0.01). The results suggest that eNOS4 gene polymorphisms are unlikely to be the major genetic susceptibility factors for essential hypertension in the Xinjiang Kazakh population. However, a positive association between plasma eNOS activity and essential hypertension has been revealed.  相似文献   

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中国畲族群体D17S30位点遗传多态性研究   总被引:5,自引:0,他引:5  
采用聚合酶链反应 (PCR)技术对中国畲族群体270名无关个体D17S30位点的VNTR进行了研究,共检出12个等位基因,片段大小为168bp-1008bp,基因频率为0.0056-0.3259,杂合度为79.10%,父权排除率为0.4358。家系分析表明,扩增片段按孟德尔方式遗传。统计学分析证明,本资料符合Hardy-W einberg平衡定律(x2=79.97,v=66,P=0.1158>0.05)。 Abstract:The variable number of tandem repeat(VNTR)of D17S30 locus in 270 unrelated individuals of She ethnic group was studied by polymerase chain reaction(PCR).The results showed that 12 alleles were detected and their sizes ranged from 168bp to 1 008bp.The allele frequencies were 0.0056~0.3259,the heterozygosity of this locus was 79.10% and the paternity exclusion probability was 0.4358.The number of D17S30 VNTR allele and allele frequency of She were different from those of Han ethnic group in Mendelian Law.Statistical analysis demonstrated that their geneotypes were consistent with Hardy-Weinberg equilibrium(x2=79.97,v=66,P=0.1158>0.05).  相似文献   

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应用聚合酶链反应(PCR)扩增ApoE基因外显子4中编码112位和158位氨基酸的 DNA片段,将该长为292bp的PCR产物以HhaI酶切,根据其限制性片段长度多态性图谱确定ApoE基因型。对广东汉族人群的50例动脉粥样硬化脑梗塞(ACI)患者和50例健康对照者的ApoE基因多态性频率的研究结果表明:所研究的人群中,ApoE基因多态性频率与ACI没有关联。ACI患者中各基因型亚组之间血清TG和TC浓度无显著性差异。 Abstract:The polymerase chain reaction(PCR)and restriction fragment length polymorphism techniques(RFLPs)were used to study the relation between apolipoprotein E gene polymorphism and atherosclerotic cerebral infarction(ACI).A 292 bp DNA fragment containing codes for the 112 and 158 amino acid residues in the fourth exon of ApoE gene was amplified by PCR.The PCR products were digested with HhaI.The polymorphism patterns of Apo E gene,allele frequencies in 50 Chinese healthy and 50 patients with ACI,and the serum levels of TG and TC in the different subgenotypes of 50 patients with ACI were detected.,no statistical significant differences of alleles frequencies were found between the cases with ACI and the control,and no statistical significant differences of the serum levels of TG and TC were found among the different subgenotypes of 50 patients with ACI.These results suggested that ApoE gene polymorphism was not associated with the development of ACI.  相似文献   

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Temporal changes in SSR allelic diversity of major rice cultivars in China   总被引:1,自引:0,他引:1  
Forty simple sequence repeats (SSRs) were used to assess the changes of diversity in 310 major Chinese rice cultivars grown during the 1950s-1990s. Of the 40 SSR loci, 39 were polymorphic. A total of 221 alleles were detected with an average of 5.7 alleles per locus (Na). The Nei's genetic diversity index (He) varied drastically among the loci (0.207 to 0.874, mean 0.625). Comparing the temporal changes in Na and He, the cultivars from the 1950s had more alleles and higher He scores than the cultivars from the other four decades. Analysis of molecular variance (AMOVA) indicated that the genetic differentiation among the five decades was not significant in the whole set, but significant within indica and japonica. More changes among the decades were revealed in indica cultivars than in japonica cultivars. Some alleles had been lost in current rice cultivars in the 1990s, occurring more frequently in indica. These results suggest that more elite alien genetic resources should be explored to widen the genetic backgrounds of rice cultivars currently grown in China.  相似文献   

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Many cancer patients are known to present in a hypercoagulable state, meaning an increased risk of thrombosis. To investigate hypercoagulable state in breast cancer (BC) patients, their coagulation status was compared with a benign disease group (control). The BC patients were divided into earlier stage (stage I and stage Ⅱ ) and later stage (stage Ⅲ and stage Ⅳ ). Thrombelastography (TEG) and other traditional coagulation tests were performed. The results showed that prothrombin time (PT) was significantly shortened and the levels of D-dimer, fibrinogen (Fib) and platelets (PLT) were significantly increased in the traditional BC group test (P< 0.05). According to TEG detection, the average level of blood clot formation time (K) was significantly lower, while the Angle, MA and CI were significantly higher in the BC group than those in benign disease group (P< 0.05). There were 5 cases of lower extremity venous thrombosis in the breast cancer patients, coinciding with hypercoagulable state. The results showed that the BC patients had an increased hypercoagulable state, with hypercoagulability becoming more obvious in advanced stages. This study suggests that BC patients have an increased tendency for clot formation, and TEG monitoring could be a useful tool to predict the risk of thrombosis for clinical prevention and treatment.  相似文献   

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To investigate the prevalence of drug-resistance mutations,resistance to antiretroviral drugs,and the subsequent virological response to therapy in treatment-naive and antiretroviral-treated patients infected with HIV/AIDS in Henan,China,a total of 431 plasma samples were collected in Queshan county between 2003 and 2004,from patients undergoing the antiretroviral regimen Zidovudine Didanosine Nevirapine(Azt Ddi Nvp).Personal information was collected by face to face interview.Viral load and genotypic drug resistance were tested.Drug resistance mutation data were obtained by analyzing patient-derived sequences through the HIVdb Program(http://hivdb.stanford.edu).Overall,38.5% of treatment-naive patients had undetectable plasma viral load(VL),the rate significantly increased to 61.9% in 0 to 6 months treatment patients(mean 3 months)(P<0.005)but again significantly decrease to 38.6% in 6 to 12 months treatment patients(mean 9 months)(P<0.001)and 40.0% in patients receiving more than 12 months treatment(mean 16 months)(P<0.005).The prevalence of drug resistance in patients who had a detectable VL and available sequences were 7.0%,48.6%,70.8%,72.3% in treatment-na?ve,0 to 6 months treatment,6 to 12 months treatment,and treatment for greater than 12 months patients,respectively.No mutation associated with resistance to Protease inhibitor(PI)was detected in this study.Nucleoside RT inhibitor(NRTI)mutations always emerged after non-nucleoside RT inhibitor(NNRTI)mutations,and were only found in patients treated for more than 6 months,with a frequency less than 5%,with the exception of mutation T215Y(12.8%,6/47)which occurred in patients treated for more than 12 months.NNRTI mutations emerged quickly after therapy begun,and increased significantly in patients treated for more than 6 months(P<0.005),and the most frequent mutations were K103N,V106A,Y181C,G190A.There had been optimal viral suppression in patients undergoing treatment for less than 6 months in Queshan,Henan.The drug resistance strains were highly prevalent in antiretroviral-treated patients,and increased with the continuation of therapy,with many patients encountering virological failure after 6 months therapy.  相似文献   

10.
A better understanding of the factors related to cancer helps health professionals like nurses to provide more individualized health care which will affect the prognosis of patients with ovarian cancer The aim of this study was to analyze the association of clinicopathological features and risk factors with ovarian cancer prognosis. This retrospective study recruited 103 patients with ovarian cancer who were treated at a single institution during the period from May 2002 to May 2014. The blood markers CA125, CA153, and serum ferritin (SF) were detected in all patients before surgery. Risk factors were analyzed using univariate and multivariate logistic regression models and survival analyses were performed using Kaplan–Meier. Menopause was considered to be associated with SF expression levels. The expression of CA125, CA153, and SF were associated with metastasis and FIGO stage. The expression of CA153 was associated with tumor grade. FIGO stage, menopause, expression levels of CA125 and CA153 are associated with poor prognosis in ovarian cancer patients. Through what we have found, nurses should pay attention to these prognostic factors in order to provide optimal nursing care and improve the quality of life of patients with ovarian cancer.  相似文献   

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For a plant selection model with frequency-independent viabilities, fertilities and selfing rates, it is shown that apart from global fixation, for certain parameter combinations a protected polymorphism and facultative fixation (either allele may become fixed according to initial frequencies) may both occur. Facultative fixation requires different selling rates for the dominant and recessive type. Protection of the polymorphism requires resource allocation for male and female function. In this connection the problem of purely genetically caused population extinction is discussed.
For general frequency dependence and regular segregation, the chances for establishment of a completely recessive gene are compared to those of a completely dominant gene. It is proven that the process of establishment of the recessive gene, despite a fitness advantage, may be considerably endangered by drift effects if random mating prevails. The recessive gene may reach the same effectivity in establishment as a dominant gene, only if the recessive homozygote mates exclusively with its own type during the period of establishment.  相似文献   

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杆状病毒是一类感染节肢动物的病原微生物,其基因组为双链环状DNA,大小为80~180kb.  相似文献   

18.
Zhang  Qingmeng  Ahmed  Niaz  Gao  George F.  Zhang  Fengmin 《中国病毒学》2020,35(6):868-874
In this article, we systematically review Dr. Wu Lien-Teh's academic achievements and outstanding contributions in the prevention and control of the plague epidemic in northeast China and introduce the development of the earliest public health epidemic prevention system in China in order to commemorate the 140th anniversary of Dr. Wu Lien-Teh's birth. We hope that this article will provide insights into the effective prevention and control of emerging infectious diseases as well as the current worldwide pandemic of COVID-19, facilitating the improvement and development of public health systems in China and around the globe.  相似文献   

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