Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5-0.7% of all the cases of idiopathic intellectual disability.

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.

Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS.

Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.

Detection of human microdeletion and microduplication syndromes poses significant burden on public healthcare systems in developing countries. With genome-wide diagnostic assays frequently inaccessible, targeted low-cost PCR-based approaches are preferred. However, their reproducibility depends on equally efficient amplification using a number of target and control primers.

Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that we have called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR). Our procedure is based on the finding of genomic regions with high homology to segments of the critical microdeletion/microduplication region.

Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil.

There is a consensus that modern humans arrived in the Americas 15,000-20,000 y ago during the Late Pleistocene, most probably from northeast Asia through Beringia. However, there is still debate about the time of entry and number of migratory waves, including apparent inconsistencies between genetic and morphological data on Paleoamericans. Here we report the identification of mitochondrial sequences belonging to haplogroups characteristic of Polynesians in DNA extracted from ancient skulls of the now extinct Botocudo Indians from Brazil.

A new case of keratoconus associated with Williams-Beuren syndrome.

Background: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified.

Recovering mitochondrial DNA lineages of extinct Amerindian nations in extant homopatric Brazilian populations.

Background: Brazilian Amerindians have experienced a drastic population decrease in the past 500 years. Indeed, many native groups from eastern Brazil have vanished. However, their mitochondrial mtDNA haplotypes, still persist in Brazilians, at least 50 million of whom carry Amerindian mitochondrial lineages.

Expression of different classes of immunoglobulin in intraepithelial plasma cells of the Harderian gland of domestic ducks Anas platyrhynchos.

The Harderian gland of chickens contains numerous plasma cells and is considered as a peripheral lymphoid organ. Data about this gland in other avian species are scarce or inexistent. Considering that ducks show some unique characteristics regarding the immune system, which are important in evolutionary context, and that unusual location of plasma cells into the epithelium was recently described in primitive avian species, here we investigated the occurrence and characterized intraepithelial plasma cells in the Harderian gland of ducks, according to the immunoglobulin produced.