PURPOSE To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly. METHODS A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatric clinic and underwent a complete general physical and ophthalmological examination, including an...

Abstract Background Stigma associated with mental disorders is rooted among many pharmacists, and represents a major barrier to patient support in community-based psychiatry. We developed an assessment scale that specifically designed assess the level of stigma pharmacists may have toward schizophrenia, then examined effects reducing educational program focuses on communication patients diagnos...

Capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) is a promising high-throughput tool for profiling complex bioremediation communities, but has not been well characterized with respect to other methods such as denaturing gradient gel electrophoresis (DGGE). The purpose of this study was to compare CE-SSCP with DGGE with respect to: 1) overall representation of the comm...

Single-strand conformation polymorphism (SSCP) analysis is widely used to prescreen mutations in p53 gene. However, standardization of SSCP to detect p53 mutations has rarely been pursued so far. We have developed complete conditions for a temperature-controlled nonradioactive SSCP for mutation detection in amplified p53 exons 4-8, where mutations frequently occur in human tumors. Easily obtain...

PURPOSE Mutations in the membrane-type frizzled-related protein (MFRP) gene have been identified in patients with pathologic high hyperopia associated with nanophthalmos or microphthalmia. This study is to test if a mutation in MFRP is responsible for physiologic high hyperopia. METHODS DNA was prepared from venous leukocytes of 51 patients with physiologic high hyperopia (refraction of spher...

As the understanding of the links between genetic mutations and diseases continues to grow, there is an increasing need for techniques that can rapidly, inexpensively, and sensitively detect DNA sequence alterations. Typically, such analyses are performed on PCR-amplified gene regions. Automated DNA sequencing by capillary array electrophoresis can be used, but is expensive to apply to large nu...

One hundred breast and breast-ovarian cancer families identified at the Helsinki University Central Hospital in southern Finland and previously screened for mutations in the BRCA2 gene were now analyzed for mutations in the BRCA1 gene. The coding region and splice boundaries of BRCA1 were analyzed by protein truncation test (PTT) and heteroduplex analysis (HA)/SSCP in all 100 families, and 70 w...

Enzyme is a dynamic entity with diverse time scales, ranging from picoseconds to seconds or even longer. Here we develop a rate theory for enzyme catalysis that includes conformational dynamics as cycling on a two-dimensional (2D) reaction free energy surface involving an intrinsic reaction coordinate (X) and an enzyme conformational coordinate (Q). The validity of Michaelis-Menten (MM) equatio...