parotid stafne bone defect is a very rare and infrequent variant, which is located on the buccal or lingual surface of the mandibular ascending ramus. in this paper, a case of parotid stafne defect, which was incidentally discovered during dental radiographic examination, is reported. this bone defect was observed as a lucent oval-shaped defect on the lingual aspect of the right mandibular ramu...

PURPOSE To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families. METHODS Genomic DNA was prepared from leukocytes of peripheral venous blood. The coding region of the TACSTD2 gene was evaluated by means of polymerase chain reaction and direct sequencing. RESULTS Sequencing of the TACSTD2 ge...

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a ...

background & importance: iniencephaly is a rare cranio-cervical deformity. it belongs to neural tube defects. this disorder is characterized by a retroflexion of head, a very short neck, varying degrees of incomplete posterior closure of vertebrae and cervical and thoracic spinal synostosis. this malformation is associated with central nervous system and systemic malformations. most of patients...

Characteristics of mating behavior in Drosophila melanogaster have been well-described, but the genetic basis for male-female mating success is largely unknown. Here we show that the white (w) gene, a classical eye color gene, is associated with mating success. 81.3 % of wild-type flies copulated within 60 minutes in the circular arenas, whereas few white-eyed mutants mated successfully. The w+...

Foramina parietalia permagna (FPP) (OMIM 168500) is caused by ossification defects in the parietal bones. Recently, it was shown that loss of function mutations in the MSX2 homeobox gene on chromosome 5 are responsible for the presence of these lesions in some FPP patients. However, the absence of MSX2 mutations in some of the FPP patients analysed and the presence of FPP associated with chromo...

Mutations in the SNF7 gene of Saccharomyces cerevisiae prevent full derepression of the SUC2 (invertase) gene in response to glucose limitation. We report the molecular cloning of the SNF7 gene by complementation. Sequence analysis predicts that the gene product is a 27-kDa acidic protein. Disruption of the chromosomal locus causes a fewfold decrease in invertase derepression, a growth defect o...

A mutant haploid strain of Saccharomyces cerevisiae has been isolated that is sensitive to the alkylating agent methyl methanesulfonate at a concentration of 0.01% (vol/vol). The strain also shows sensitivities to x-rays and ultra-violet light, which cosegregate with sensitivity to methyl methanesulfonate as a single gene defect. An analysis of the sensitivity to ultraviolet light indicates tha...

BACKGROUND The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene. AIMS The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population. MATERIALS AND METHODS GATA4 gene analyses were undertaken on 21 confirmed CHD ...

background: premature ovarian failure (pof) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. mutations in bone morphogenetic protein 15 (bmp15) and growth differentiation factor 9 (gdf9) have been shown to be associated with pof. methods: genomic dna was isolated from 52 idiopathic premat...