Objective: To investigate the relationship between the morphological features of nuclear enlarged cells and human papillomavirus (HPV) infection in negative for intraepithelial lesion or malignancy (NILM) and atypical squamous cells of undetermined significance (ASC-US).
Methods: In total, 128 Papanicolaou specimens comprising 41 ASC-US cases and 87 NILM cases were examined. Cell morphological analysis was performed using both area ratio (nuclear area in cells with nuclear enlargement/nuclear area in normal intermediate cells) and nuclear contour thickening.
Purpose: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP.
Methods: The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects.
Results: We found 39 single nucleotide substitutions including 17 rare substitutions of less than 1% in frequency, one insertion/deletion polymorphism, and one CA-repeat polymorphism in a 7.