PubMed Health⌕ Search

Biomedical subjects

J Hass

Publications and source records attributed to J Hass.

11 recordsLinked to original sources
PubMed2000

Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.

Tuberous sclerosis (TSC) is an autosomal dominant disorder which is genetically heterogeneous with two genes, TSC1 and TSC2. TSC1 consists of 23 exons with exon 15 being the largest one comprising 559 bp. Representing 16% of the coding region exon 15 harbors 37% of the already identified point mutations in TSC1. Mutation screening of large DNA fragments as TSC1 exon 15 by SSCP has been a problem because of the low sensitivity of this method without subdivision. Therefore, we simultaneously performed heteroduplex analysis (HDA) and temperature gradient gel electrophoresis (TGGE) which are both more suitable for evaluation of fragments of this size. DNA samples of 159 patients with the clinical diagnosis of TSC were screened and a total of seven different mutations in nine unrelated cases were identified, including the three novel mutations 1754delT, 1836delT and R500Q. Comparing the two methods applied, HDA showed a higher sensitivity in detecting frameshift mutations, while TGGE seemed to be more sensitive for the detection of base exchanges. We conclude that the combination of these two methods is appropriate to reach a high degree of sensitivity for the detection of all types of small mutations in large DNA fragments.

Electrophoresis, Polyacrylamide Gel↗
PubMed1999

Storage of cord blood attracts private-sector interest.

Storage of cord blood from their babies can cost parents several hundred dollars, and some private companies are already offering the service. Janis Hass reports that some Canadian specialists question the value of the banks.

Blood Banks↗
PubMedDate not supplied

An introduction to digital cameras.

BACKGROUND AND OBJECTIVES: People in all walks of life are using digital cameras instead of the traditional film cameras. Reasons include simplicity of use, ease of development, ability to incorporate the pictures into documents, potential to edit the pictures easily, and capability to send them by e-mail. This article will briefly discuss digital cameras, how they work, what they can do, and what you should look for in one. Editor's Note: This is the fourth in a series of articles demonstrating and describing information technology. The articles include nontechnical information and are geared toward the computer novice with interest in regional anesthesia and pain medicine.

Computer Peripherals↗