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| What plays an important role in human diseases? |
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Definition
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| What are some benefits to making a genetic diagnosis? Name some. |
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Definition
| Prognosis, management, recurrence risk, why, support groups, treatment, lowered costs |
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| The origins of genetics can be traced back to whom? |
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Definition
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| How was genetics used in the early 20th century? |
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Definition
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Definition
| The study of abnormal form |
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Definition
| Studies metabolic errors and traits |
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| Focuses on screening and risk assessment to educate pregnant patients or those planning pregnancy about risk to having a baby with medical problems |
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Definition
| Deals with diseases that appear later in life (e.g. hypertension, cancer) |
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Definition
| Investigates problems presents in a family to aid in establishing a diagnosis |
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Definition
| Performs genetic lab work |
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Definition
| Direct action on the development of the embryo and the consequences that action has on human function (ex. Hurler Syndrome) |
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| Indirect genetic influences |
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Definition
| when a malformed or dysfunctioning organ secondarily causes another anomaly which can cause an illness or disorder (small mandible-->tongue falls back into oropharynx [called glossoptosis] |
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Definition
| individual presentations along a spectrum (not present to severe) with a syndrome |
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Definition
| predicted outcome of a disorder relative to both the quantity and quality of life |
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Definition
| genetic make-up of human beings |
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Definition
| an individual's specific genetic make-up |
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Definition
| physical characteristics that make us different |
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| # of genes in the human body |
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Definition
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| # of chromosomes in the human body |
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Definition
| 46 (22 pairs of autosomes and 1 pair of sex-linked) |
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Term
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Definition
| Differing/alternative forms of each gene |
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Term
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Definition
| 1. putting together and forming an organism; 2. regulating function, growth, and development |
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| % of DNA that doesn't participate in the genetic code |
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Definition
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Term
| The short arm of the chromosome is called what? |
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Definition
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| The long arm of the chromosome is called what? |
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Definition
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| The central part of the chromosome is called what? |
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Definition
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Definition
| one copy of a duplicated chromosome joined at the centromere |
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Definition
| allows in organism to grow in size |
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Definition
| 46 chromosomes from original cell into 2 daughter cells with 46 chromosomes each |
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Definition
| Specialized cell division for formation of gametes (reproduction) |
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Definition
| 46 chromosomes from original cell into 2 daughter cells with 23 chromosomes each splitting DNA in half |
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Term
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Definition
| traits controlled by genes that contain exact same instructions from the trait |
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Term
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Definition
| traits controlled by genes that contain differing instructions for the trait |
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Term
| How are physical traits determined? |
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Definition
| Heredity, infections/illnesses, immigration, war, etc. |
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Term
| How is intelligence influenced? |
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Definition
| Heredity, prolonged exposure to household environment, etc. |
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Term
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Definition
| multiple genetic influences |
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Term
| What are the four letters in the gene code? |
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Definition
A (adenine)
T (thymine)
G (guanine)
C (cytosine) |
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Term
| Of these, AGTC, which pair together to make bases? |
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Definition
| Adenine and Thymine; Guanine and Cytosine |
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Term
| What is the purpose of the DNA code? |
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Definition
| To transmit information out of the cell's nucleus into the cytoplasm where ribosomes use the information to synthesize a protein which leads to extracellular activities necessary for growth and development |
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Definition
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Definition
| segments of DNA that don't code for products |
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Definition
| Information transmitted from DNA to mRNA; base pair from DNA is linked to mRNA |
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Definition
| Information transmitted from mRNA to tRNA; opposite pair from mRNA is matched to the tRNA then grouped in threes to make an amino acid--finally made into a polypeptide chain |
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Term
| Two main types of substitutions within a gene? |
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Definition
| base-pair substitutions and base-pair insertions/deletions |
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Term
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Definition
| replacement of one nucleotide and its partner with another pair of nucleotides |
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Term
| Base-pair insertion/deletion |
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Definition
| when one or more nucleotides are inserted or deleted within a gene |
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Term
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Definition
| Proportion of individuals carrying a particular variation of a gene (allele/genotype) that also expresses a particular trait (phenotype) |
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Term
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Definition
| Refers to variations of a phenotype in individuals carrying a particular genotype (think of the disorder along the spectrum) |
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Definition
| the risk that an inherited condition will occur again in a family |
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Term
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Definition
1. Deletions: absence of one or more base pairs of DNA
2. Additions: altering the genetic code of typically very small segments of DNA
3. Changes: isolated to a single gene; more than one can could mutate rarely |
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| Example of Addition Mutation |
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Definition
Trisomy 21 (Down Syndrome)
47 chromosomes vs. 46 |
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| Example of Deletion Mutation |
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Definition
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| Example of Changes Mutation |
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Definition
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Definition
| deletion of an entire chromosome complement of 46 |
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Definition
| addition of an entire chromosome resulting in 47 chromosomes being present |
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Definition
| Any deviation from normal structure, form, or function that is considered to be abnormal |
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Definition
| Malformations/Deformations |
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Definition
| Intrinsic error in development of tissue, organ, structure, or function |
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Definition
| Extrinsic error to tissue, organ, structure, or function |
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Definition
| When extrinsic forces cause tears in developing fetus or prevent fusion of certain developing processes |
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Definition
| Anomalies that do not typically require treatment (missing teeth, abnormal finger nails) |
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Definition
| Anomalies that do require treatment; may threaten life or health (cleft palate, heart, or missing limbs) |
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Definition
| Total frequency of a particular disorder at birth |
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Definition
| Frequency of a disorder among a specific portion of the population |
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Term
| Chromosomal Syndrome requirements |
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Definition
| can be classified as a chromosomal syndrome only if an chromosomal analysis reveals an abnormality in structure under a light microscope |
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Definition
| rearrangement of chromosome structure resulting in an abnormal amount or structure of the chromosomes |
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Definition
| trait is expressed even though other gene in pair does not code for trait |
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Definition
| can only be expressed if both members of the pair have the same mutation |
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Term
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Definition
1. Not sex-linked
2. No carriers
3. 50% affected; 50% unaffected |
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Term
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Definition
1. Not sex-linked
2. 25% affected; 50% carriers; 25% unaffected |
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Term
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Definition
| Same genetic mutation resulting in different disease expression based on origin of parental chromosome with the mutation (e.g. Prader-Wili and Angelman Syndromes) |
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Term
| X-Linked Dominant (w/ carrier mother) Xx |
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Definition
25% affected female
25% affected male
25% unaffected female
25% unaffected male |
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| X-Linked Dominant (w/ carrier father) Xy |
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Definition
100% affected females
100% unaffected males |
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Term
| X-Linked Recessive (w/ carrier mother) x[x] |
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Definition
25% of carrier female
25% of affected male
25% of unaffected female
25% of unaffected male |
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| X-Linked Recessive (w/ carrier father) [x]y |
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Definition
50% of carrier female
50% of unaffected male |
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Term
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Definition
1. only male to male transmission
2. mutations typically cause infertility
3. only male affected |
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Term
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Definition
| observed trait that the condition worsens over generations in severity and/or age of onset |
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Definition
| expansion of three-base repeats with a gene (Huntington's, Fragile X) |
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Definition
| Related to the organs of the body and living organisms |
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Definition
| Transmission from parent to offspring by information needed encoded in the parental germ cells |
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Definition
| Science with the means and consequences of transmissions and generation of the components of biological inheritance |
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