As research advances, scientists hope to determine the precise
location of a given gene so they can test entire populations to identify carriers of the disease gene.
Not exact matches
Discovering the approximate
location on the chromosome
of the
gene or
genes responsible for a
given disease will permit doctors to diagnose a genetic disease or predisposition before the onset
of symptoms.
The site's core pages
give an overview
of fly development, and others list detailed information about the
locations of genes in chromosomes, the structure and function
of the proteins they encode, and references to the scientific literature.
The study for the first time estimates the minimum number
of locations in the human genome — 250 to 300 — where
gene copy number variation (CNV) can
give rise to autism spectrum disorder (ASD).
Botstein and Davis» landmark conceptual breakthrough, published in 1980,
gave researchers the tools to trace and map out the genetic inheritance
of disease in humans, while Hogness» work provided the means
of identifying the precise physical
location of genes of interest on chromosomes.
At any
given instant it can be argued that the cell is in a «state» defined by its components — their concentrations and
locations, the interactions between components — that are modulated in space and time, and the complex circuitry — that involves a large number
of interacting networks and a snapshot
of the dynamical processes — such as
gene expression, cell cycle, transport
of components, etc..