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Terms in this set (38)
Adult stem cell
An undifferentiated cell found in a differentiated
tissue that can renew itself and (with certain limitations)
differentiate to yield all the specialised cell types of the tissue
from which it originated.
There are usually two copies of a gene.
These two copies are called alleles. In some cases, one or both, alleles will be
mutated or altered in some way.
Any chromosome that is not a sex chromosome (that
is not an X or Y chromosome). In humans, the autosomes are
the numbered chromosomes and are given the numbers 1 - 22.
bone marrow stem cells
Stem cells found in bone marrow that generate bone, cartilage, fat, and fibrous connective tissue.
BRCA1 and BRCA2
Cancer protection' (tumour suppressor) genes.
Mutations in these genes can be inherited and confer a predisposition (increased risk) to breast and ovarian cancer.
The constricted part of the chromosome that separates it into its two arms.
The short arm is called the 'p' arm (for 'petit')
the long arm is called the 'q' arm (because q follows p in the alphabet).
A threadlike structure found in the nucleus of all the body cells (except red blood cells) consisting of DNA and proteins.
Each chromosome can be thought of as a string of beads where every bead represents a gene.
Every cell contains two copies of each gene. Where only one of the gene copies or allele is mutated, and the other allele is 'correct', but the person is affected by a genetic
condition due to that mutation, the mutation is described as
The mutated gene is said to be dominant over the
other 'correct' copy of the gene.
A condition or characteristic
caused by a dominant gene mutation only requires one of the
genes to be mutated for the person to be affected.
embryonic stem cells
Primitive (undifferentiated) cells from the embryo that have the potential to mature and develop into a wide variety of specialised cell types.
The practice of trying to influence human heredity by encouraging the transmission of 'desirable' characteristics and discouraging the transmission of 'undesirable' ones.
A characteristic or condition that tends to run in families.
The basic unit of heredity; a segment of DNA that contains
the information for a specific characteristic or function.
Isolating a gene and then making multiple copies of
it by inserting it into a bacterial cell or another organism.
Determining the relative locations of different
genes on chromosomes.
A method of treating genetic conditions by inserting a correct copy of the gene in question into the cells of individuals who have the mutated gene
The information contained in the DNA which is 'interpreted' by the cells to produce proteins.
The chemicals (nucleotides) which make up the DNA can be described by
the letters A (Adenine), T (Thymine), C (Cytosine) and G
Thus the genetic code can be written as a series of
letters (for example AAA CGT TTC).
A genetic condition is caused by a change in the genetic information.
Genetic conditions may be caused by a mutation in a single gene or may be caused by a change in chromosome structure or number
The provision of diagnosis, information and support by health professionals with specialised training in genetics and counselling
The complete set of genes carried by an individual or a
The number of new cases of a condition detected annually, per unit of the population. For genetic conditions, the incidence is quoted as the number of affected individuals
per 1,000 births whether detected at birth or not.
The proportion of a whole population affected by a
These structures or organelles in the cell are the
main energy source: they are often called the powerhouse
of the cell. The mitochondria also contain their own DNA
and therefore genes; mitochondrial genes follow maternal
The genetic material contained in the
circular genome found in mitochondria.
A permanent change in a gene. If the mutation occurs
in the egg or sperm (sex cells), it can then be inherited.
Mutations in somatic cells cannot be inherited. Mutations
can occur naturally and spontaneously or they may be due to
exposure to mutagens.
A gene which, when triggered, can lead to cancer (see
Each chromosome is divided into two parts, joined by the
The 'p' arm is the shorter of the two segments and
is at the top of the chromosome.
The longer segment is called the q arm
Each chromosome has two segments joined by the
The 'q' arm is the longer of these two segments.
The shorter segment is called the 'p' arm.
The physical and/or biochemical characteristics of a
person, an animal or other organism which are determined by
their genetic makeup and/or environment.
Changed genes, DNA sequences or chromosome
structures which occur naturally in the population and do not
cause any harm to the individual.
A situation in which a person, due to their
inherited genetic makeup, may have a particular susceptibility
to a condition if exposed to the correct environmental triggers.
Every somatic cell in our body contains two copies of
each gene. Each gene contains the information for a particular
gene product, such as a protein. If a gene is mutated, the gene
no longer codes for the gene product. Where an individual has
one gene copy or allele mutated and the other copy 'working',
the cell will only be producing half the amount of gene product.
If this does not result in a genetic condition in the individual,
the mutation is described as being hidden or 'recessive' to
the correct copy of the gene. An individual with this genetic
constitution is said to be a 'carrier' of a recessive gene
mutation. For a recessive gene mutation to result in a particular
characteristic or a genetic condition, both copies of the genes
must be mutated
An X or a Y chromosome which are different
from the 22 autosomes.
Undifferentiated cells with the ability to divide for
indefinite periods in cell culture and to give rise to specialised,
The terminal or end segment of each chromosome arm
This occurs when a piece of one chromosome
breaks off and attaches to another different chromosome.
When no material is lost or gained the translocation is said to
be 'balanced' and the individual may or may not be affected by
it. An 'unbalanced' translocation results in the loss or gain of
genetic material which may result in a genetic condition.
Any gene that is located on the X chromosome
X-linked recessive mutation
recessive mutation in a gene
carried on the X chromosome.
A dominant mutation in a gene
carried on the X chromosome.
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