牛腺病毒3型(bovine adenovirus type 3,BAdV-3)为腺病毒科(Adenoviridae)哺乳动物腺病毒属(Mastadenovirus)的成员,为无囊膜包裹的线性双链DNA病毒,是导致牛呼吸道疾病的重要病原之一。本文就BAdV-3的生物学特性、流行情况、致病性、...牛腺病毒3型(bovine adenovirus type 3,BAdV-3)为腺病毒科(Adenoviridae)哺乳动物腺病毒属(Mastadenovirus)的成员,为无囊膜包裹的线性双链DNA病毒,是导致牛呼吸道疾病的重要病原之一。本文就BAdV-3的生物学特性、流行情况、致病性、检测技术等方面的研究进展进行综述,以期为后续科学研究以及BAdV-3相关疾病的有效防控提供参考。展开更多
Background Waardenburg syndrome type I （WS1） is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly ...Background Waardenburg syndrome type I （WS1） is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees. Methods A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WSI. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABl_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program. Results Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein. Conclusions This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.展开更多
文摘牛腺病毒3型(bovine adenovirus type 3,BAdV-3)为腺病毒科(Adenoviridae)哺乳动物腺病毒属(Mastadenovirus)的成员,为无囊膜包裹的线性双链DNA病毒,是导致牛呼吸道疾病的重要病原之一。本文就BAdV-3的生物学特性、流行情况、致病性、检测技术等方面的研究进展进行综述,以期为后续科学研究以及BAdV-3相关疾病的有效防控提供参考。
基金This work was supported by a grant from National Natural Science Foundation of China(No.30371523)Research Foundation from Chinese PLA General Hospital(No.03YZJJ003)to Dr.YUAN Hui-jun
文摘Background Waardenburg syndrome type I （WS1） is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees. Methods A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WSI. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABl_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program. Results Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein. Conclusions This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.
