RESUMO
We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovine fibrillin sequence contains the same number and type of motifs as the human FBN1 sequence, including the same number of putative calcium binding sites. All of the motifs conform to the patterns demonstrated in the human sequence, and many of the differences in identity between the sequences are conservative.
Assuntos
DNA Complementar/genética , Proteínas dos Microfilamentos/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Bovinos , Mapeamento Cromossômico , Primers do DNA/genética , Modelos Animais de Doenças , Fibrilina-1 , Fibrilinas , Humanos , Síndrome de Marfan/genética , Camundongos , Dados de Sequência Molecular , Homologia de Sequência de Aminoácidos , Especificidade da EspécieRESUMO
The molecular basis for several hereditary disorders of connective tissues has been elucidated in recent years. In this chapter, we discuss recent advances in the molecular characterization of a number of these disorders and examine their clinical applications.
Assuntos
Doenças do Tecido Conjuntivo/genética , Doenças Ósseas/genética , Síndrome de Ehlers-Danlos/classificação , Síndrome de Ehlers-Danlos/genética , Oftalmopatias/genética , Humanos , Artropatias/genética , Síndrome de Marfan/genética , Biologia Molecular , Osteocondrodisplasias/congênito , Osteocondrodisplasias/genética , SíndromeRESUMO
Findings in a patient with mosaic isochromosome 8p are compared with those of previously reported cases. There were no distinguishing findings on physical examination; all had cognitive delays, especially in speech and language development.
