Subject(s)
Foreign Bodies/therapy , Insufflation/methods , Laryngeal Masks , Nasal Cavity , Barotrauma/prevention & control , Child, Preschool , Female , HumansABSTRACT
We present a case of a 39-year-old woman with a vulval lesion, which macroscopically looked consistent with a fungating squamous cell carcinoma of the vulva. However, further investigations demonstrated a less common cause for this presentation.
Subject(s)
Granuloma Inguinale/diagnosis , Syphilis/diagnosis , Vulvar Diseases/diagnosis , Adult , Azithromycin/therapeutic use , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/pathology , Diagnosis, Differential , Female , Granuloma Inguinale/complications , Granuloma Inguinale/drug therapy , Granuloma Inguinale/pathology , Humans , Penicillin G Benzathine/therapeutic use , Syphilis/complications , Syphilis/drug therapy , Syphilis/pathology , Vulvar Diseases/complications , Vulvar Diseases/drug therapy , Vulvar Diseases/pathologyABSTRACT
We have constructed a transcription map covering a 2 Mb region beginning approximately 1 Mb distal to HLA-F. Cosmids isolated from a chromsome 6 library were positioned by YAC hybridisation, STS and fingerprint analysis. Using direct cDNA selection, exon trapping, and direct genomic sequence analysis, we identified 42 potential exonic fragments in this region. Six fragments corresponded to previously characterised genes, four previously broadly mapped to this region. Five fragments were similar to known genes, eight fragments matched ESTs and 10 of the remaining 23 novel fragments, gave a positive signal on northern analysis. All cDNA fragments were mapped to the YAC and cosmid contig covering the region and with respect to other known genes and STS in this area. The distribution of the cDNA fragments indicated their organisation in three clusters around CpG islands.
Subject(s)
HLA Antigens/genetics , Histocompatibility Antigens Class I/genetics , Transcription, Genetic , Base Sequence , Cloning, Molecular , Contig Mapping , Cosmids , DNA Primers , HumansABSTRACT
Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome. Subsequent divergent evolution of the genes within paralogous regions can lead to the formation of gene families. Here, we report the identification of a region on Chromosome (Chr) 6 at 6p21.3 that is paralogous with the Spinal Muscular Atrophy (SMA) gene region on Chr 5 at 5q13.1. Partial characterization of this region identified nine sequences all of which are highly homologous to DNA sequences of the SMA gene region at 5q13.1. These sequences include four beta-glucuronidase sequences, two retrotransposon sequences, a novel cDNA, a Sequence Tagged Site (STS), and one that is homologous to exon 9 of the Neuronal Apoptosis Inhibitor Protein (NAIP) gene. The 6p21.3 paralogous SMA region may contain genes that are related to those in the SMA region at 5q13.1; however, a direct association of this region with SMA is unlikely given that no linkage of SMA with Chr 6 has been reported.
Subject(s)
Chromosomes, Human, Pair 5 , Chromosomes, Human, Pair 6 , Muscular Atrophy, Spinal/genetics , Base Sequence , Cosmids , DNA, Complementary , DNA, Satellite , Glucuronidase/genetics , Humans , Microsatellite Repeats , Molecular Sequence Data , Multigene Family , Pseudogenes , Retroelements , Tumor Cells, CulturedABSTRACT
The gene responsible for hereditary haemochromatosis (HH) has recently been identified. One mutation in this gene, termed HFE, has been found in all Australian HH patients. We previously identified a predominant HH ancestral haplotype covering 4.5Mb at 6p21.3, and showed that patients with two copies of this haplotype express a more severe form of the disorder. One key question to now be resolved is why haplotype related variation in phenotypic expression of HH is present if all patients tested have the same HFE mutation. A cosmid resource covering the 4.5Mb HH ancestral haplo type region was obtained. These cosmids provide the material for the completion of a transcript map of this region, and will assist the identification of candidate modifiers of HFE expression.
