Clinial genetics

Human papillomavirus (HPV) infection is very common in sexually active women, but cervical cancer only develops in a small fraction of HPV-infected women, suggesting that unknown intrinsic factors associated with the unique genetic/genomic background of the high-risk population play a critical role in cervical carcinogenesis. Although our previous studies have identified the hyperactivated YAP1 oncogene as a critical contributor to cervical cancer, the molecular mechanism by which YAP1 drives cervical cancer is unknown...

Chemokines and their receptors represent a potential target for immunotherapy in chronic inflammation. They comprise a large family of cytokines with chemotactic activity, and their cognate receptors are expressed on all cells of the body. This network dictates leukocyte recruitment and activation, angiogenesis, cell proliferation and maturation. Dysregulation of chemokine and chemokine receptor expression as well as function participates in many pathologies including cancer, autoimmune diseases and chronic inflammation...

Aim: Neuronal ceroid lipofuscinosis (NCLs) are the most common neurodegenerative disorders, with global incidence of 1 in 100,000 live births. NCLs affect central nervous system, primarily cerebellar and cerebral cortices. Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs. JNCL is primarily caused by pathogenic mutations in CLN3 gene, which encodes a transporter transmembrane protein of uncertain function. The 1.02 kb deletion is the most common mutation in CLN3 that results in frame shift and a premature termination leading to nonfunctional protein...

The association of the cytokine gene polymorphisms with the development of Behçet's Disease (BD) was investigated in this study. DNA samples were obtained from a Turkish population of 97 unrelated patients with BD, and 127 unrelated healthy control subjects.All genotyping (IL-6, IL10, IFN-gamma, TGF-Beta1 and TNF-alpha) experiments were performed using sequence-specific primers PCR. The frequency of TGF-Beta1 codon 25 GG genotype was found significantly lower in BD patients compared to healthy control subjects...

Electrophoretic surveys have demonstrated that populations of the sea anemone Metridium senile along the northeast coast of the United States are polymorphic at four enzyme loci. Phosphoglucose isomerase (PGI) has two alleles in most populations, phosphoglucomutase (PGM) has three alleles, and two leucine aminopeptidase loci have two common alleles each. Phosphoglucose isomerase displays clinial variation and an apparent association with environmental temperature. Phosphoglucomutase shows clinial variation north of Cape Cod for two of the three alleles, while the two leucine aminopeptidase loci are not clinial...

Blood genetic and antropometric data on Melanesians from Bougainville, Papus New Guinea, are analyzed by random-effects analysis of variance to partition the observed variation into components for the individuals, village, and language group level. Both clinial and unpatterned group differences exist. The differences between language groups appear to be substantial, even when the results are corrected for clinal effects. The amounts of variation of each level correspond roughly to a similar analysis of heterozygosity in blood polymorphisms...