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Genetics and Genomics
Terms in this set (90)
study of inheritance of characteristics and traits.
Also study of inherited diseases, and also study of inherited variations.
Traits are transmitted through ______ from parents to the offspring.
_______ are a sequence of nucleotides which have information to the offspring.
Genes are part of _____________
__________ are part of chromosomes
What is in the nuclei of eggs and sperms and transfer information to the offspring?
the complete set of information for the growth, development and function of a person is called the ...
Genes can _________ in different ways to express 100,00 - 200,000 proteins.
all the cells of your body except your sex cells
haploid reproductive cells which have only half the number of chromosomes as body cells
All somatic cells (except gametes) have ....
43 chromosomes as 23 pairs
Gametes (egg and sperm) have half the number, 23 chromosomes known as ...
the haploid number
Genetic information functions at several levels
encoded in DNA
expresses in RNA and protein
affects cells and tissue
affect the individual
passed on to next generation
the study of the human body (whole sets of genes) in terms of interacting genes
Genetic change drives _____________
Genes provide variability of ...
eye, skin and hair color, height, body form, personality traits etc.
Genes don't act alone, they are influenced by environmental factors such as ..
chemicals, physical, social and biological factors.
Genetics has the power of prediction also know as MODES OF INHERITANCE, which in details means ...
the pattern in which a gene variant passes from generation to generation, dominant or recessive, autosomal or sex-linked.
term used to refer to a cell that contains both sets of homologous chromosomes. A cell is called diploid from the moment of fertilization.
take all the chromosomes from one cell and you order them by their size and create a chart.
There are 46 chromosomes or 2 set of 23 pairs of chromosomes.
chromosomes other than sex chromosomes
The X and Y chromosomes that determine the sex of an individual
There are 23 pairs of chromosomes. Pair 1-22 are called _____________
and 23 is a ______________.
1-22 are called autosomes
and 23 is a sex chromosome
What method allows DNA probes to bind to chromosomes of interest for direct visualization of anomalies at molecular level ?
The FISH method
(Fluorescence in situ hybridization)
Each chromosomes contains ...
100s/1000s of genes
different versions of a gene for the same trait
different versions of a gene for the same trait
Alleles can be identical, then they are called ...
having two identical alleles for a trait
having two different alleles for a trait
The maximum of alleles for each genes is ...
Combination of alleles constitutes a ...
the appearance of a health condition in a person that develops as a result of how these genes are expressed is termed the PHENOTYPE
alternative, or more uncommon phenotypes
if a particular phenotype is common in a particular population
An individual whose phenotype is either normal or the most common expression in a particular population.
is an allele whose action masks that of another allele
an allele whose expression is masked by a dominant allele
Pertaining to a chromosome that is not a sex chromosome
An allele that casues a disease can be ...
dominant or recessive
modes of inheritance
the pattern in which a gene variant passes from generation to generation
Autosomal dominant is one of several ways that a trait or disorder can be passed down through families.
If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. One of the parents may often have the disease.
is a diagram that depicts family relations and known genotype and phenotypes.
when one allele is not completely dominant over another
A heterozygote in which both alleles are fully expressed
a disease causing allele and everyone with this genotype has all the symptoms.
a genotype that does not express the associated phenotype
a phenotype's intensity of symptoms that vary in different people
family members who have different symptoms.
A single protein found in different parts of the body.
Marfan syndrome is caused by changes (mutations) in one member of the pair of fibrillin genes. As a result, the body produces fibrillin that does not work and connective tissue that is not as strong as it should be. The growth and development of the body are affected, particularly in the connective tissues of the aorta, eye and skin. It causes overgrowth of the long bones of the body, resulting in tall height, long arms and legs, and a weakened structural support in blood vessels, heart valves, cartilage and ligaments.
Traits molded by one or more genes plus environment
Traits determined by one or more gene.
Example of poligenic traits (several genes contributing to one phenotype) are:
height, skin color, eye color etc.
excess or deficiency of chromosomes
the single set of genes that males acquire from their mother's X chromosome
affects a structure or function present in only males or females. (beards only for men/breasts only for women)
a phenomenon in which expression of an allele in offspring depends on whether the allele is inherited from the male or female parent
having more than the diploid number of chromosomes or akna a condition in which an organism has extra sets of chromosomes
small head, tiny features and do not live very long. Organisms that possess 4 times more chromosomes than a haploid cell
a normal chromosome number
missing or having an extra chromosome.
A chromosomal aberration in which certain chromosomes are present in extra copies or are
deficient in number. Less severe.
downsyndrome caused by
trisomy common for ...
chromosome 13, 18 and 21
trisomies of other chromosomes, fetuses do not develop.
chorionic villus sampling (CVS)
sampling of placental tissue for microscopic and chemical examination to detect fetal abnormalities. Sample taken through cervix. Can be done earlier than amniocentesis.
fetal cells are sorted and karyotypes constructed to detect abnormalities.
gene therapy can ...
alter, replace, silence and augment a gene's function
When neither of the two alleles of a gene are dominant or recessive
Chromosomal aberrations are abnormalities in the structure or number of chromosomes and are often responsible for genetic disorders.
(Same as chromosomal mutations)
an allele that causes a disease can be
dominant or recessive?
absorb and verbalize this ...
An allele that causes a disease can be
dominant or recessive. This allele may be autosomal (carried on non sex chromosomes or X-linked, or it could be Y-linked (carried on Y chromosome. The MODE OF INHERITANCE refers to whether a trait is dominant, recessive, autosomal or on a sex chromosome. This is important in the prediction of an illness or a traits in offspring.
Are chromosome pairs of the same length, centromere position, and staining pattern with genes.
One homologous chromosome is inherited from the organism's mother, the other from the organism's father.
is a condition which often begins to cause symptoms in adulthood
is a condition which tends to produce symptoms early or even before birth
ability of different gene mutations to cause the same phenotypic change
example: there are 200 forms of hereditary deafness. each are due to impaired actions of a different gene. Different genes affect different aspects of hearing.
or: 11 different reactions can cause bleeding disorders
The condition of having three copies of a given chromosome in each body cell rather than the normal number of two
fetal fibroblasts is ...
cultured and karyotyped to check for abnormalties
the process of treating a disease or disorder by replacing a dysfunctional gene with a functional one
gene therapy can..
alter, replace, silence and augment gene function
gene expression profiling
the technology that provides glimpses of gene function
the branch of genetics that studies the full set of proteins encoded by a genome
Adenosine Deaminase (ADA) Therapy
A four-year old girl became the first gene therapy patient in 1990. She has adenosine deaminase (ADA) deficiency, a genetic disease which leaves her defenseless against infections. White blood cells were taken from her, and the normal genes for making adenosine deaminase were inserted into them. The corrected cells were re-injected into her. The ADA patient now attends school and is living a normal live.
in order to improve, delay or prevent symptoms of a defective gene ...
gene therapy is performed at a gene level but gene disorders can be treated at the protein level
all the genes in the body that are not sex-linked.
Trait is dominant: phenotype appears every generation, affected individual has at least one affected parent, affects both male and female
tangier disease...explanation was hard to find
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy
of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes.
Sex-linked dominant is a rare.. A single abnormal gene on the X chromosome can cause a sex-linked dominant disease.
Dominant inheritance occurs when an abnormal gene from one parent is capable of causing disease, even though a matching gene from the other parent is normal. The abnormal gene dominates the gene pair.
For an X-linked dominant disorder: If the father carries the abnormal X gene, all of his daughters will inherit the disease and none of his sons will have the disease. If the mother carries the abnormal X gene, half of all their children (daughters and sons) will inherit the disease tendency.
again....could not find much on this
Sex-linked diseases are inherited through one of the "sex chromosomes" -- the X or Y chromosomes.
Recessive inheritance occurs when both matching genes must be abnormal to produce disease. If only one gene in the pair is abnormal, the disease does not show up or is mild. Someone who has one abnormal gene (but no symptoms) is called a carrier. A carrier can pass this abnormal gene to his or her children.
The term "sex-linked recessive" usually refers to X-linked recessive.
X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.
The Y chromosome is the other half of the XY gene pair in the male. However, the Y chromosome doesn't contain most of the genes of the X chromosome. It therefore doesn't protect the male. This is seen in diseases such as hemophilia and Duchenne muscular dystrophy.
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