RATIONALE Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations. However, direct sequencing does not detect other types of heterozygous mutations, such as exonic deletions/duplications. OBJECTIVE To estimate the frequency of BMPR2 exonic deletions/duplications in FPAH. METHODS BMPR2 mRNA from ...

Thoracoabdominal foregut duplications account for less than 2% of all gastrointestinal duplications. Here, we report a case of thoracoabdominal duplication cyst in an eight-month old boy who presented with both respiratory and abdominal complaints. Excision of both thoracic and abdominal extensions of the thoracoabdominal duplications in the same session is an appropriate and safe option to pre...

A method is described to detect and measure the frequency of spontaneous tandem genetic duplications located throughout the Salmonella genome. The method is based on the ability of duplication-containing strains to inherit two selectable alleles of a single gene during generalized transductional crosses. One allele of the gene carries an insertion of the translocatable tetracycline-resistance e...

Genetic analyses of 49 duplications of the rII region of bacteriophage T4D suggests that there is a non-random relationship between the end points of duplicated segments, that relaxed packaging restrictions have little if any effect on the distribution of duplications, that segregation is 3-4 times more frequent than normal recombination for the same interval, and that non-tandem duplications a...

Complete genome doubling has long-term consequences for the genome structure and the subsequent evolution of an organism. It has been suggested that two genome duplications occurred at the origin of vertebrates (known as the 2R hypothesis). However, there has been considerable debate as to whether these were two successive duplications, or whether a single duplication occurred, followed by larg...

Demographics The true prevalence of vaginal and uterine duplications is unknown because the anomaly may not manifest until the reproductive years of the individual.2 Although a prevalence of 3.2% in the healthy fertile population has been quoted in one study, another study quoted an incidence of 0.1–0.5%.3, 4 Rackow and associates reported an incidence of 3–4% in fertile and infertile women, 5–...

Tandem direct duplications are a common feature of the genomes of eukaryotes ranging from yeast to human, where they comprise a significant fraction of copy number variations. The prevailing model for the formation of tandem direct duplications is non-allelic homologous recombination (NAHR). Here we report the isolation of a series of duplications and reciprocal deletions isolated de novo from ...