Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.     

Introduction History and Invasion Patterns of Ammophila arenaria on the North Coast of California

European beachgrass ( Ammophila arenaria [L] Link), introduced to stabilize sand, is fully naturalized in central and northern California and has supplanted populations of native dune plants in many areas, including the North Spit of Humboldt Bay. We interpreted air photos of the North Spit for the presence of Ammophila arenaria at three points in time: 1939/1942, 1962, and 1989. To quantify the spread and to detect invasion patterns of Ammophila , we then compiled maps using a geographic information system. We documented introduction dates and locations to improve the accuracy of our photo interpretation. Interpretation of the three photo series revealed invasion and expansion of Ammophila in both foredunes and inland dunes. The most dramatic increase in cover was found in the foredunes, whereas documented and presumed plantings were found mostly on inland dunes. Adjusting for intentional eradication, Ammophila cover on the North Spit was found to have increased between 1939 and 1989 by 574%. The square root of the area occupied by Ammophila on the North Spit increased linearly with time, conforming to biological invasion theory.     

VALUE OF WOODY RWER CORRIDORS IN LEVEE PROTECTION ALONG THE MISSOURI RWER IN 19931

ABSTRACT: Following the Midwest flood of 1993, a study was initiated along a 39-mile segment of the Missouri River to determine if there was an association between woody corridors and levee stability. A systematic sample of levee failures revealed that primary levees which did not fail had a significantly wider woody corridor than failed levees. Analysis of the total inventory of failed levees revealed that as the width of the woody corridor decreased, the length of the levee failure increased. Number of levee failures and their severity of damage could be reduced if woody corridors were at least 300 feet wide.     

Current Awareness in Prenatal Diagnosis

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted