Study objective—Evaluating the costs, eVects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. Design—A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two strategies were evaluated: single entry and double entry two step couple screening. Firstly, the Du...

Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exc...

Background: The immune antigen of Bacillus anthracis is a protein that can attach to the surface receptor of all human cells. At the surface of cancer cells, there is a receptor that activates the uPA (Urokinase plasminogen) that do not exist in normal human cells. Objectives: The aim of this study was changing the location of the attachment of the PA gene by a dir...

Background: The immune antigen of Bacillus anthracis is a protein that can attach to the surface receptor of all human cells. At the surface of cancer cells, there is a receptor that activates the uPA (Urokinase plasminogen) that do not exist in normal human cells. Objectives: The aim of this study was changing the location of the attachment of the PA gene by a dir...

To evaluate the association between paired box 9 (PAX9) gene polymorphisms and tooth agenesis in isolated humans, we performed a comprehensive meta-analysis. We examined 6 case-control studies, with a total of 855 hypodontia cases and 1201 healthy controls. The G allele and G carrier (AG + GG) of A1031G were positively associated with hypodontia susceptibility. Similarly, the T allele and T car...

Genetic variation in the CASP-8 gene reportedly can increase cancer susceptibility by regulating tumor cell proliferation and apoptosis. Several studies have investigated this possibility; however, the conclusions remain controversial. We made a Human Genome Epidemiology (HuGE) review and did a meta-analysis to explore the association between CASP-8 gene polymorphisms and cancer risk in Asian p...

background: parathyroid hormone is an 84-amino acid peptide secreted by the parathyroid glands. its physiological role is maintenance of normal serum calcium level and bone remodeling. biological activity of this hormone is related to n-terminal 1-34 amino acids. the recombinant form of hormone (1-34) has been approved for treatment of osteoporosis from 2002. in this study, a novel fusion partn...

the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...