MUTATION DETECTION IN HEMOCHROMATOSIS CANDIDATE GENES

Project: Research project

Description

The program has been divided into two phases according to the guide lines
for the Physician Scientist Award (K11) program and will be completed
over a period of five years. The Phase I will focus on acquiring
fundamental knowledge and basic laboratory skills required for advanced
work in molecular genetics. The didactic portion will include laboratory
meetings, research conferences, and formal course work in molecular
biology of eukayotic cells, developmental biology and advanced topics in
molecular genetics. Her research during this phase will involve analysis
of 10 novel cDNA clones that she isolated from the region of the
hemochromatosis gene locus. This work will include methods to identify
the most likely gene candidates for hemochromatosis by mutation detection
in Southern and Northern blot analysis, and gene expression studies
involving iron regulation. The transition from Phase I to Phase II will
consist of a formal presentation of research progress and demonstration
of a broad fund of knowledge acceptable to the advisory committee. During Phase II the great bulk of the applicant's time will be spent in
the laboratory. Emphasis will be placed on developing self confidence
and independence in the use of scientific methodology. She will continue
to analyses the cDNA clones. During this period she will undertake to
master advanced techniques of mutation detection such as SSCP. RNase
protection, DGGE, and sequencing. She will have to isolate full length
clones for some of the genes by library screening. In the process she
will acquire sufficient laboratory skills and knowledge to pursue an
independent research career and develop an efficient method of screening
additional gen candidates as they become available.
StatusFinished
Effective start/end date7/15/946/30/00

Funding

  • National Institutes of Health: $99,090.00
  • National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health
  • National Institutes of Health: $86,130.00

Fingerprint

Hemochromatosis
Mutation
Clone Cells
Research
Molecular Biology
Genes
Complementary DNA
Single-Stranded Conformational Polymorphism
Developmental Biology
Phase Transition
Financial Management
Advisory Committees
Southern Blotting
Gene Library
Northern Blotting
Cell Biology
Iron
Physicians
Gene Expression
Ribonucleases

ASJC

  • Medicine(all)