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43 Cards in this Set

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  • Back
protein
A large complex molecule made up of one or more chains of amino acids.
ribosome
Cellular organelle that is the site of protein synthesis
transcription
he process of copying information from DNA into new strands of messenger RNA (mRNA), which then carries the information to the cytoplasm to serve as a blueprint for manufacturing a specific protein.
nondisjunction
an error in cell division where the chromosomes fail to disjoin, so that both pass to the same daughter cell.
Down syndrome
disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features
autosome
A chromosome that is not one of the sex chromosomes.
Mendel
The father of genetics
translation
the process by which the mRNA code is converted to a sequence of amino acids (a protein).
meiosis
ell division by which eggs and sperm are produced
gene linkage - A group of genets located close together on a chromosome.
sex-linked
A gene coded on a sex chromosome, such as the X-chromosome linked genes of flies and man
mutation
A change in a DNA sequence.
translocation
mutation in which a large segment of one chromosome breaks off and attaches to another chromosome
PKU
A congenital condition in which the body lacks a specific enzyme. This causes abnormal metabolism that may result in brain damage.
muscular dystrophy
A hereditary disease characterized by progressive weakness caused by degeneration of muscle fibers.
crossing over
Where a section of one chromosome switches places with the same section from the other chromosome of the pair.
amniocentesis
A prenatal test in which cells surrounding a fetus are removed in order to examine the chromosomes.
lethal
gene or genotype that is fatal for the individual gene
karyotype
the chromosomal characteristics of a cell
codon
A sequence of three nucleotides on a strand of m-RNA that codes for an amino acid.
deletion
The loss of a segment of the genetic material from a chromosome
cystic fibrosis
an autosomal recessive genetic condition, which causes the body to produce excessively thick, sticky mucus that clogs the lungs and pancreas, impairing breathing and digestion.
syndrome
A collection of symptoms that characterize a specific disease or condition.
monosomy
Possessing only one copy of a particular chromosome instead of the normal two copies. Source
trait
a distinguishing feature of your personal nature
pedigree
a diagram of a family tree indicating the family members and their relationship to the person with an inherited disorder
gamete
Mature male or female reproductive cell (sperm or ovum) with a haploid set of chromosomes (23 for humans).
hemophilia
Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots.
trisomy
An abnormal condition in cells where there are three copies, instead of two, of a particular chromosome.
carrier
A person who has one copy of the gene mutation for a recessive disorder. Carriers are not affected by the disorder. However, they can pass on the mutated gene to their children. Children who inherit two such genes may be affected by the disorder.
gene
A sequence of DNA that represents a fundamental unit of heredity. Most genes encode proteins, but some code for RNA molecules.
punnett square
A diagrammatic representation of a particular cross used to predict the progeny of the cross. A grid used as a graphic representation of the progeny zygotes resulting from different gamete fusions in a specific cross.
Klinefelter
United States physician who first described the XXY-syndrome (born in 1912)
color-blindness
Color blindness in humans is the inability to perceive differences between some or all colors that other people can distinguish. It is most often of genetic nature, but might also occur because of eye, nerve, or brain damage, or due to exposure to
State the four laws of Mendelian genetics and explain what each means?
Law 1 (Law of Unit Character) – most traits are controlled by genes which occur in pairs. It was later learned that X-linked traits are controlled by only a single copy of the gene in the male

Law 2 (Law of Dominance) – One member of a pair of genes can completely mask of hide the effect of its recessive allele and incomplete dominance and codominance occur in some gene pairs

Law 3 (Law of segregation) – During meiosis, the members of the gene pairs separate so that each gamete gets only one member of a pair

Law 4 (Law of Independence Assortment) – During meiosis, the members of the gene pairs on one pair of chromosomes assort themselves independently of the gene pairs on other pairs of chromosomes. Thus, if genes A and a are located on one pair of chromosomes and genes B and b are located on another pair of chromosomes, the gametes which could be produced would be: AB, Ab, and aB, and ab. Each of these would have equal probability of being found and later discovered genes are linked
State four Characteristics of sex linked traits
1.Genes located on X chromosomes (Since girls have two X chromosomes, they have two chances of normal genes)

2.No allele on Y (Since boys have only one X chromosome, they have no second chance of have a normal gene to hide a recessive)

3.Expressed more often in one sex; boys show recessive traits more often

4.Never passed father to son
Describe the chromosomal make up of males and females in humans
males who are XY pass an X chromosome to each daughter and a Y to each son. Females who are XX pass on one of their X chromosomes to each child
Define monosomy and trisomy
monosomy - Possessing only one copy of a particular chromosome instead of the normal two copies. Source

trisomy - An abnormal condition in cells where there are three copies, instead of two, of a particular chromosome.
Describe how amniocentesis can be used in prenatal diagnosis of many genetic disorders
fluid can reveal unusual substances cells can be karyotyped for extra, missing, broken, chromosomes
Compare and contrast Gene and chromosome
Gene –A sequence of DNA that represents a fundamental unit of heredity. Most genes encode proteins, but some code for RNA molecules.

chromosome - Separate strands of genes, contained in the nucleus of a cell. Normally, chromosomes appear in corresponding pairs. A genome is made up of a complete set of paired chromosomes.
Describe the relationship between the movement of chromosomes during meiosis and the segregation of gene pairs in the gametes
Interphase

prophase I

Metaphase I

Anaphase I

Telophase I
State the relationship between maternal age and down syndrome
Down syndrome is what happens when you have a child in maternal age
Describe what a karyotype is and tell how it can be used in diagnosis
in arrangement of cell’s chromosomes by size and shape they are used to diagnose genetic disorders involving missing chromosomes, extra chromosomes and chromosomes with missing parts
Describe what a polygentic trait is?
are many genes extremes and many variations in between

Describe what a pedigree?

a diagram of a family tree indicating the family members and their relationship to the person with an inherited disorder.