Term
| How many chromosomes are there? |
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Definition
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Term
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Definition
| all chromosomes except sex chromosomes |
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Term
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Definition
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Term
| what are the four nitrogen bases? |
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Definition
adenine
guanine
cytosine
thymine |
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Term
| In which phase are chromosomes visible? |
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Definition
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Term
| What are the 2 types of cell division? what types of cells? |
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Definition
mitosis - somatic
meiosis - gametes |
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Term
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Definition
| result of mitosis = 2 daughter cells with identical chromosomes and genes to the parent cell |
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Term
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Definition
| result of meiosis = each gamete (haploid reproductive cell) only has 23 chromosomes - on of each type of autosome and an X or a Y |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| complete picture of the chromosomes |
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Term
| What does HIPPA say about genetic info? |
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Definition
prohibits denying coverage, limiting eligability, or charging more based on genetic info.
Limits exclusions for pre-existing condition.
Genetic info alone, in absence of current disease is NOT considered a pre-existing condition. |
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Term
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Definition
| the obligation of those who obtain information about individuals, either legitamately or illegitimately, to protect the privacy of that information. |
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Term
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Definition
| the moral obligation, usually under exceptional circumstances, to disclose information to at-risk relatives; this duty may require a health care professonal to breach patient confidentiality if a person, other than the patient, is in clear imminent danger. |
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Term
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Definition
| a process in which an individual or famly makes a decision based on relevent information |
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Term
| What is patient autonomy? |
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Definition
| the obligation to respect the decision-making capacities of autonomous persons who have been fully informed with accurate and unbiased information |
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Term
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Definition
| the right to control access to information about oneself. |
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Term
| What are nucleotides composed of? |
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Definition
| A DNA nucleotide contains one of four different nitrogenous bases; A, T, C, G |
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Term
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Definition
| formed by DNA wrapped around histones (small positively charged proteins) |
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Term
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Definition
| substance forming chromosomes, the substance that forms chromosomes and contains DNA, RNA< and various proteins |
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Term
| What nitogenous bases bind together? |
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Definition
Adenine binds with thymine.
Cytosine binds with guanine. |
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Term
| What determines the genome sequence? |
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Definition
| the order of bases along a strand of DNA |
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Term
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Definition
| sequence of DNA in the genome that is required for production of a functional product. |
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Term
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Definition
| genes determine how, when, and where the body makes each of the many thousands of different proteins required for life. |
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Term
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Definition
| messenger RNA (mRNA) is synthesized from the DNA template. |
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Term
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Definition
| mRNA links with tRNA within the ribosome to form polypeptides. |
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Term
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Definition
| study of chromosomes - structure and their inheritance as applied to the practice of medicine. |
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Term
| What is the most common method for visualizing chromosomes? |
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Definition
| G-banding with Giemsa stain |
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Term
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Definition
| region joining two parts of chromosome: the point at which two parts (chromatids) of a chromosome join and at which the spindle fibers are attached during cell division methods. |
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Term
| How are chromosomes classified? |
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Definition
by position of the centromere.
Metacentric = central centromere
submetacentric = off center with arms of different lengths.
Acrocentric - centromere is near one end. |
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Term
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Definition
P = short arm
Q = long arm |
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Term
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Definition
abnormal number of chromosomes due to an extra or missing chromosome.
Always associated with physical or mental maldevelopment or both.
Most common chromosomal abnormality |
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Term
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Definition
only one of a particular chromosome.
Generally lethal except for monosomy X |
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Term
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Definition
three of a particular chromosome.
Only viable in chromosomes 13, 18, 21, X & Y |
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Term
| What are the two most common unbalances structural rearrangements of chromosomes? |
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Definition
| deletions and duplications |
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Term
| what are the three common balanced structural rearrangements of chromosomes? |
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Definition
| inversion, translocation, insertion |
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Term
| What is Robertsonian translocation? |
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Definition
| Two acrocentric chromosomes fuse |
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Term
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Definition
| two complete cell lines with different genetics in one individual |
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Term
| What is interesting about Prader-Willi and Angelman syndrome? |
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Definition
| the syndromes have similar mutations however which parents you got the mutation from determines the syndrome |
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Term
| What are three major patterns of inheritance? |
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Definition
| chromosomal, single gene, and complex (multifactorial) inheritence |
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Term
| What are the most common types of chromosomal disorders? |
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Definition
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Term
| What is mendelian inheritance? |
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Definition
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Term
| What types of inheritance affect males and females equally? |
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Definition
| autosomal inheritance - whether dominant or recessive |
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Term
| What type of inheritance affects males more often? |
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Definition
| x-linked inheritance - recessive |
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Term
| What type of inheritance affects females more often? |
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Definition
| x-linked inheritance - dominant (most males don't survive birth) |
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Term
| What are some non-mendelian inheritance patterns? |
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Definition
| mitochondrial, triplet repeat expansions, imprinting |
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Term
| What is multifactorial (complex) inheritance? |
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Definition
| interaction between two or more genes and non-genetic or environmental factors |
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Term
| What are some environmental factors? |
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Definition
| prenatal environment (alcohol, drugs, nutrition, thyroid, maternal stress), nutrition, environmental toxins, and teratogenic drugs |
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Term
| What are the only trisomy disorders that are compatible with life? |
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Definition
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Term
| What only monosomy disorder compatible with life? |
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Definition
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Term
| What is the most common chromosomal disorder? |
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Definition
| Trisomy 21 - Down's Syndrome |
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Term
| What is the greatest risk factor for Trisomy 21? |
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Definition
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Term
| What causes the phenotypical appearance of Trisomy 21? |
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Definition
| overexpression of genes on the extra chromosome |
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Term
| What are the common anomalies seen with chromosomal disorders? |
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Definition
| growth retardation, mental retardation, and congenital anomalies |
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Term
| What diagnostic test for Down's dyndrome has the lowest risk? highest risk? |
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Definition
lowest = amniocentesis
highest = percutaneous umbilical sampling (PUBS) |
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Term
| What is Edward's syndrome? |
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Definition
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Term
| Who does Edward's syndrome affect more often? |
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Definition
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Term
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Definition
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Term
| What congenital anomolies are often seen in Edward's syndrome? |
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Definition
| severe central nervous system malformations, eye and ear deformities, cleft lip and palate |
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Term
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Definition
| partial deletion of chromosome 5 - the severity of the disease relates to the severity of teh deletion |
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Term
| What are also known as genome disorders? |
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Definition
| small delections or duplications on certain chromosomes |
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Term
| What gene is responsibel for the sexual phenotype of an individual? |
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Definition
| Gene SRY (sex-determining regino on Y) determines teh sexual phenotypes |
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Term
| What is X-chromosome inactivation? |
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Definition
| in somatic cells of normal females one of the X-chromosomes is inactivated early in development |
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Term
| How is it determined which X will be inactivated? |
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Definition
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Term
| What is an inactive X chromosome called? |
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Definition
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Term
| What re he msot common sex chromosome disorders? |
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Definition
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Term
| What is Klinefelter's syndrome? |
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Definition
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Term
| What is Turner's Syndrome? |
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Definition
| monosomy X, XO individuals are genetically female, however they do not mature sexually druing puberty and are sterile. |
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Term
| When are single-gene disorders most often seen? |
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Definition
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Term
| What is the most common etiology of recessive disorders? |
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Definition
| the mutation impairs or eliminates teh function of an enzyme |
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Term
| What is the recurrence risk for each sibling with autosomal recessive inheritance? |
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Definition
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Term
| What familial pattern is often seen in autosomal recessive inheritance? |
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Definition
| phenotype typically seen in siblings but not in parents or offspring |
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Term
| What is hemochromatosis? What type of pt? |
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Definition
iron overlaed causing fatigue, impotence, hyperpigmentation, diabetes, cirrhosis, cardiomyopathy.
Pt = males |
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Term
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Definition
| progressive pulmonary disease, exocrine pancreatic insufficiency, decreased male fertility, elevated sweat chloride concentration, and failure to thrive - autosomal recessive |
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Term
| What is Tay-Sachs disease? |
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Definition
| lysosomal storage disease seen in Ashkenazi Jews, French Canadians, Louisiana Cajuns, and Pennsylvania Amish |
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Term
| What familial pedigree pattern is seen in autosomal dominant disorders? |
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Definition
| appears in every generation - affected patient has an affected parent |
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Term
| What is the risk for the child in AD disorders? |
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Definition
| a child has a 50% risk of inheriting from an affected parent |
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Term
| What percentage of hyperlipidemia disorders are caused by familial hypercholesterolemia? |
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Definition
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