ABSTRACT
A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.
Subject(s)
Hemophilia A/diagnosis , Turner Syndrome/diagnosis , Child, Preschool , Chromosomes, Human, X , Diagnosis, Differential , Exons , Factor VIII/genetics , Female , Hemizygote , Hemophilia A/complications , Hemophilia A/genetics , Homozygote , Humans , Knee Injuries/diagnosis , Mutation , Turner Syndrome/complications , Turner Syndrome/geneticsSubject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/epidemiology , Cystic Fibrosis/genetics , Genetic Testing , Adult , Bayes Theorem , Child , Child, Preschool , Cystic Fibrosis/diagnostic imaging , Cystic Fibrosis/embryology , Female , Genotype , Humans , Infant , Male , Mutation , Pedigree , Pregnancy , Pregnancy Trimester, Second , Retrospective Studies , South Australia/epidemiology , Ultrasonography, PrenatalABSTRACT
A Bacillus thuringiensis isolate has been discovered which is toxic to the common housefly (Musca domestica) as well as other Diptera and Lepidoptera. Crystal delta-endotoxins purified from this isolate killed 50% of Musca larvae at a concentration of 10.2 micrograms/ml, and beta-exotoxin was not detected. Sodium dodecyl polyacrylamide gel electrophoresis of the purified crystals revealed three protein species which were related to CryIA(b), CryIB and CryIIA toxins on the basis of immunoreactivity and amino-terminal sequence determination. Southern blot and DNA restriction analyses suggested that the strain has sequences related to one cryIA(b), one cryIIA, and two cryIIB genes.
Subject(s)
Bacillus thuringiensis/chemistry , Bacterial Proteins , Endotoxins , Houseflies , Pest Control, Biological , Amino Acid Sequence , Animals , Bacillus thuringiensis/cytology , Bacillus thuringiensis/genetics , Bacillus thuringiensis Toxins , Bacterial Proteins/chemistry , Bacterial Proteins/isolation & purification , Bacterial Proteins/toxicity , Bacterial Toxins/isolation & purification , Bacterial Toxins/toxicity , Blotting, Southern , DNA, Bacterial/analysis , DNA, Bacterial/genetics , Endotoxins/chemistry , Endotoxins/isolation & purification , Endotoxins/toxicity , Exotoxins/isolation & purification , Exotoxins/toxicity , Hemolysin Proteins , Insecta/drug effects , Molecular Sequence Data , Nucleic Acid Hybridization , PlasmidsABSTRACT
Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Köbner type, were examined in a single kindred. A positive lod score of 1.2 at theta = 0.2 was found for Fy. To test the clinical observation that Köbner and Weber-Cockayne types may be the same disease determined by different alleles, published lod scores from definite Weber-Cockayne families were added to those from this study. A lod score of 1.8 was found at theta = 0.2. This value falls to 1.5 at theta = 0.2 when all families other than Ogna type are included. The Köbner variant studied is not closely linked to GPT and is therefore distinct from EBS1 (Ogna type). Linkage analysis is consistent with an hypothesis that Köbner and Weber-Cockayne types are determined by a single locus; however, further evidence is needed before this locus can be designated EBS2 and assigned to chromosome 1.
