采用PCR-RFLP分子标记技术,检测了湖羊、哈萨克羊及中国美利奴多胎羊、"A"型羊和细型、超细型羊5个群体,共314只个体,角蛋白中间丝I型基因第1外显子的遗传多态性,并进行与绵羊羊毛性状相关性分析。结果表明:480 bp PCR产物经M...采用PCR-RFLP分子标记技术,检测了湖羊、哈萨克羊及中国美利奴多胎羊、"A"型羊和细型、超细型羊5个群体,共314只个体,角蛋白中间丝I型基因第1外显子的遗传多态性,并进行与绵羊羊毛性状相关性分析。结果表明:480 bp PCR产物经M spⅠ消化分析后在5个绵羊群体中均有2个等位基因突变(M占0.910 8,N占0.089 2)和3种基因型(MM占0.839 2,MN占0.141 5,NN占0.019 3),优势等位基因M基因频率比欧洲绵羊和印度绵羊品种高。序列比对发现,第1个M spⅠ酶切位点发生1个碱基C→T突变(g.160 C>T)。中国美利奴羊在该位点处于Hardy-W e inberg不平衡状态(P<0.05),其中中国美利奴细型、超细型群体在该位点处于Hardy-W e inberg极不平衡状态(P<0.01)。该位点与羊毛纤维直径不相关。展开更多
Background: Autoantibodies directed against desmoplakin (Dp) I and II have recently been characterized in a subset of patients with severe erythema multiforme (EM), a recurrent inflammatory skin disease with a broad s...Background: Autoantibodies directed against desmoplakin (Dp) I and II have recently been characterized in a subset of patients with severe erythema multiforme (EM), a recurrent inflammatory skin disease with a broad spectrum of clinical manifestations. These autoantibodies recognize a peptide epitope localized within the extreme end of the carboxy terminal domain of Dp responsible for the assembly of keratin filaments to the desmosomal plaque. Using dot blot analysis with overlapping synthetic peptides, the binding epitope YSYSYS has been identified. Objectives: To establish an enzyme-linked immunosorbent assay (ELISA) for detection of peptide-specific anti-Dp autoantibodies in sera of patients with EM. Methods: A synthetic peptide containing the respective amino acid sequence was used as matrix for ELISA plates. Serum samples from patients with known EM and peptide-specific anti-Dp autoantibodies verified by immunoblotting, immunoprecipitation and epitope mapping were used. Results: Establishing an index value of 42.0,25 of 25 serum samples from five patients with peptide-specific anti-Dp autoantibodies were positive in the ELISA. From control sera, none of 31 bullous disease sera and only one (1.2%) of 83 normal human sera were positive. Conclusions: These data show that the ELISA presented in this study represents a sensitive and highly specific tool for the detection of peptide-specific anti-Dp autoantibodies in patients with EM.展开更多
[Objective] The paper was to provide new germplasm sources for efficient and economical degradation and utilization of animal keratin.[Method] The keratin-degrading fungus was isolated,screened and primarily identifie...[Objective] The paper was to provide new germplasm sources for efficient and economical degradation and utilization of animal keratin.[Method] The keratin-degrading fungus was isolated,screened and primarily identified by using the combination method of traditional isolation and screening,solid culture-medium degradation and animal test.[Result] A strain of non-pathogenic filamentous fungi with high degradation efficiency was obtained,which was preliminarily identified to be a species in Mucoraceae.[Conclusion] The discovery of the strain enriched the family members of keratin-degrading fungus,and provided new germplasm resources for degradation and utilization of animal keratin.展开更多
Ectodermal dysplasia/skin fragility syndrome (EDSFS)- (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail ...Ectodermal dysplasia/skin fragility syndrome (EDSFS)- (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Our study was performed to further characterize the histopathology of EDSFS in different cutaneous sites with a special emphasis on the hypotrichosis and keratoderma. A total of 4 biopsies were obtained from 2 EDSFS female patients, aged 9 days to 4 years. The biopsies were taken from the blistering skin of the leg and trunk, the hyperkeratotic skin of the sole, and the hypotrichotic scalp. The observed histopathologic features included: widened intercellular spaces, suprabasal intraepidermal clefts and blisters with acantholytic keratinocytes, detachments of the upper epidermal layers due to disadhesion, varying degrees of dyskeratosis thatweremuchmore pronounced in the plantar hyperkeratotic skin, and increased number of catagen- telogen hair follicles. The electron- microscopic observations attributed the disadhesion and acantholysis to reduced numbers of small hypoplastic desmosomes, and the dyskeratosis to the detachment of intracellular keratin filaments from the desmosomes with perinuclear condensation, which might also underlie the plantar keratoderma. The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling.展开更多
文摘采用PCR-RFLP分子标记技术,检测了湖羊、哈萨克羊及中国美利奴多胎羊、"A"型羊和细型、超细型羊5个群体,共314只个体,角蛋白中间丝I型基因第1外显子的遗传多态性,并进行与绵羊羊毛性状相关性分析。结果表明:480 bp PCR产物经M spⅠ消化分析后在5个绵羊群体中均有2个等位基因突变(M占0.910 8,N占0.089 2)和3种基因型(MM占0.839 2,MN占0.141 5,NN占0.019 3),优势等位基因M基因频率比欧洲绵羊和印度绵羊品种高。序列比对发现,第1个M spⅠ酶切位点发生1个碱基C→T突变(g.160 C>T)。中国美利奴羊在该位点处于Hardy-W e inberg不平衡状态(P<0.05),其中中国美利奴细型、超细型群体在该位点处于Hardy-W e inberg极不平衡状态(P<0.01)。该位点与羊毛纤维直径不相关。
文摘Background: Autoantibodies directed against desmoplakin (Dp) I and II have recently been characterized in a subset of patients with severe erythema multiforme (EM), a recurrent inflammatory skin disease with a broad spectrum of clinical manifestations. These autoantibodies recognize a peptide epitope localized within the extreme end of the carboxy terminal domain of Dp responsible for the assembly of keratin filaments to the desmosomal plaque. Using dot blot analysis with overlapping synthetic peptides, the binding epitope YSYSYS has been identified. Objectives: To establish an enzyme-linked immunosorbent assay (ELISA) for detection of peptide-specific anti-Dp autoantibodies in sera of patients with EM. Methods: A synthetic peptide containing the respective amino acid sequence was used as matrix for ELISA plates. Serum samples from patients with known EM and peptide-specific anti-Dp autoantibodies verified by immunoblotting, immunoprecipitation and epitope mapping were used. Results: Establishing an index value of 42.0,25 of 25 serum samples from five patients with peptide-specific anti-Dp autoantibodies were positive in the ELISA. From control sera, none of 31 bullous disease sera and only one (1.2%) of 83 normal human sera were positive. Conclusions: These data show that the ELISA presented in this study represents a sensitive and highly specific tool for the detection of peptide-specific anti-Dp autoantibodies in patients with EM.
基金Supported by Technology Major Projects for Cultivation of New Varieties of National Genetically Modified Organism(2008ZX08005-002)~~
文摘[Objective] The paper was to provide new germplasm sources for efficient and economical degradation and utilization of animal keratin.[Method] The keratin-degrading fungus was isolated,screened and primarily identified by using the combination method of traditional isolation and screening,solid culture-medium degradation and animal test.[Result] A strain of non-pathogenic filamentous fungi with high degradation efficiency was obtained,which was preliminarily identified to be a species in Mucoraceae.[Conclusion] The discovery of the strain enriched the family members of keratin-degrading fungus,and provided new germplasm resources for degradation and utilization of animal keratin.
文摘Ectodermal dysplasia/skin fragility syndrome (EDSFS)- (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Our study was performed to further characterize the histopathology of EDSFS in different cutaneous sites with a special emphasis on the hypotrichosis and keratoderma. A total of 4 biopsies were obtained from 2 EDSFS female patients, aged 9 days to 4 years. The biopsies were taken from the blistering skin of the leg and trunk, the hyperkeratotic skin of the sole, and the hypotrichotic scalp. The observed histopathologic features included: widened intercellular spaces, suprabasal intraepidermal clefts and blisters with acantholytic keratinocytes, detachments of the upper epidermal layers due to disadhesion, varying degrees of dyskeratosis thatweremuchmore pronounced in the plantar hyperkeratotic skin, and increased number of catagen- telogen hair follicles. The electron- microscopic observations attributed the disadhesion and acantholysis to reduced numbers of small hypoplastic desmosomes, and the dyskeratosis to the detachment of intracellular keratin filaments from the desmosomes with perinuclear condensation, which might also underlie the plantar keratoderma. The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling.
