BACKGROUND Deposits of abnormally hyperphosphorylated tau are a hallmark of several dementias, including Alzheimer disease (AD), and about 10% of familial frontotemporal dementia (FTD) cases are caused by mutations in the tau gene. As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found. OBJECTIVE To exami...

Sixteen Y-chromosomal short tandem repeats (STRs) (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in DNA samples from 52 unrelated men and 15 autosomal STRs (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, vWA) were also studied for a...

We investigated the role of common genetic variation in educational attainment and household income. We used data from 5,458 participants of the National Child Development Study to estimate: 1) the associations of rs9320913, rs11584700 and rs4851266 and socioeconomic position and educational phenotypes; and 2) the univariate chip-heritability of each phenotype, and the genetic correlation betwe...

A survey of the genetic diversity and population structure of the Douglas-fir Swiss needle cast pathogen Phaeocryptopus gaeumannii was conducted with single-strand conformational polymorphisms (SSCP) to screen for variability in mitochondrial and nuclear housekeeping genes. Thirty host populations representing the natural range of Douglas-fir as well as locations where the tree was planted as a...

Daphnia magna belongs to the Cladocera and plays an important role in water ecosystem. With intensification of pollution, wild population D. has declined rapidly recent years, insufficient molecular markers have limited effective research conservation this species. In research, 30 novel single nucleotide polymorphism (SNP) were developed a cultivar 12 using restriction site-associated DNA seque...

in view of the fundamental role of genetics in development of obesity, the present study aimed to investigate the single nucleotide polymorphism of some obesity-related genes among a subset of obese women living in tabriz, iran. for this purpose, 70 eligible obese women (aged 18-45 years) were genotyped for the uncoupling protein-1 (ucp-1) -3826a>g, ß3-adrenergic receptor (ß3adr) trp64arg, lept...

Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation. CNVs from general population in currently available databases help classify CNVs of uncertain clinical significance, and benign CNVs. Earlier studies ...

Molecular genetics selection on individual genes is a promising method to genetically improve economically important traits in livestock. The insulin like growth factor-I (IGF-I) gene may play important roles in growth of multiple tissues, including muscle cells, cartilage and bone. The objectives of the present study were the estimate the haplotype frequencies of the IGF-I gene polymorphisms i...

Introduction: Anterior cruciate ligament (ACL) injuries are among the most common of knee and often require reconstruction. The etiology molecular mechanisms rupture anterior is poorly understood, many external internal factors have been associated with it, including genetics. This study aimed to investigate association sequence variants in ELN FMOD candidate genes ACL ruptures based on essenti...

The increasing amount of sequence data provides new opportunities and challenges to derive mechanistic models that can link sequence variations to phenotypic diversity. Here we introduce a new computational framework to suggest possible consequences of sequence variations on regulatory networks. Our method, called sTRAP (strap.molgen.mpg.de), analyses variations in the DNA sequence and predicts...