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Deoxyribose
Phosphate molecule
Four nitrogenous bases |
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| the genetic constitution of an organism |
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| any observable characteristic or trait of an organism |
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a diagrammatic representation of the chromosomes arranged in pairs in descending order of size and according to
the position of the
centromere |
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Reproduction and division of somatic (body) cells
Results in 2 identical diploid cells (daughter cells)
Each new cell contains the entire genetic information in 23 chromosome pairs |
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Reproduction of gametes (sperm and egg cells)
Diploid cells go through a second division resulting in a total of 4 haploid cells
Haploid cells only have one member of each chromosome pair
Haploid cells have 23 chromosomes |
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| genetic errors can change information of the daughter cells (i.e., alterations to own cells) |
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Meiosis: errors result in germ cells with a potential for genetic diseases (i.e., pass down to offspring) |
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| one base pair replaces another |
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| insertion or deletion of one or more base pairs of the DNA molecule |
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Changes in a single gene, often a single codon (a sequence of 3 bases in a strand) which result in functional changes in the protein for which it codes. |
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| Multifactoral or Multigenic Disorders |
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traits produced by multiple genes
Changes in many genes that contribute to disease(s).
Not considered officially as a strictly genetic disease, as environmental influences affect the expression of the trait. |
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| Somatic cells that do not have a multiple of 23 chromosomes are aneuploid. Aneuploidy is usually the result of nondisjunction. |
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failure to separate normally during meiosis or mitosis
Occurs in a variety of ways
Results in an abnormal number of chromosomes in daughter cells |
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The frameshift mutation involves the insertion or deletion of one or more base pairs of the DNA molecule. They alter the amino acid sequence. |
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| a trisomy of chromosome 21, is the best-known disease caused by a chromosome aberration. It affects 1 in 800 live births and is much more likely to occur in the offspring of women older than 35 years. |
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| A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing? |
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In translation, RNA directs the synthesis of a polypeptide, interacting with transfer RNA (tRNA), a cloverleaf-shaped strand of about 80 nucleotides. |
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| When homologous chromosomes fail to separate during meiosis, which of the following occurs? |
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Nondisjunction is an error in which homologous chromosomes or sister chromatids fail to separate normally during meiosis or mitosis. |
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| Abnormalities of chromosome structure include |
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| deletions, duplications, inversions, and translocations. |
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| caused by single genes, each of which occupies a position, or locus, on a chromosome. |
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Individuals with at least two X chromosomes and one Y chromosome in each cell (47 XXY karyotype) have a disorder known as Klinefelter syndrome. |
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| movement of blood into and out of the capillary beds of the lungs to body organs/tissues |
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| movement of gases between air spaces in the lungs and bloodstream |
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| mechanical movement of gas/air into and out of lungs |
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| A silent mutation occurs if a base-pair is changed but the DNA still codes for the same amino acid. This is possible as amino acids have more than one codon (triplet) that codes for them. |
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| Insertion or deletion of one or more base-pairs is a frameshift mutation and can change the entire reading frame. |
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| A mutagen is an agent that increases the frequency of mutations. A spontaneous mutation occurs when a mutation occurs but there is no exposure to a mutagen. |
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| Uracil is structurally similar to thymine. Therefore, the correct base-pairs are adenine with thymine, guanine with cytosine, and uracil with adenine |
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| The promoter site signals the beginning of a gene and is the location of the RNA polymerase binding. |
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| Excised sequences are called introns |
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| Exons are the portions of code that remain after introns are excised, and they code for the actual proteins |
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| The anticodon is the sequence of three nucleotides that undergo complementary base-pairing in translation. |
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| primary gas-exchange units |
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Somatic cells are all cells that are not gametes (sperm and eggs).
They have 46 chromosomes in the nucleus and are considered diploid cells. |
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| The gametes are haploid cells that have only 23 chromosomes and are formed from diploid cells through meiosis. |
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| a cell that does not contain a multiple of 23 chromosomes |
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| The term aneuploid means that the cell does not contain a multiple of 23 chromosomes. Monsomy is the presence of only one copy of a given chromosome in a cell. Trisomy is when there are three copies of a chromosome. Tetraploidy is a cell that contains 92 chromosomes. |
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| Down syndrome is one of the best known examples of aneuploidy, occurring in 1 in 800 live births. Persons with Down syndrome have a distinctive facial appearance with a low nasal bridge, epicanthal folds, protruding tongue, and flat low-set ears. They also have poor muscle tone and short stature. The disease produces mental retardation, with an IQ between 25 and 70 (low). |
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| Turner syndrome has a karyotype of 45, X. Persons with Turner syndrome are females who are usually sterile, have minimal body hair, and have short stature with a webbed neck. They also have coarctation of the aorta. Down syndrome produces mental retardation, with an IQ between 25 and 70 (low). Persons with Down syndrome have a distinctive facial appearance with a low nasal bridge, epicanthal folds, protruding tongue, and flat low-set ears. They also have poor muscle tone and short stature. Persons with Klinefelter syndrome are male with 47,XXY. The testes are small, body hair is sparse, and the voice is somewhat high pitched. A moderate degree of mental impairment is present. Fetal alcohol syndrome does produce some mental retardation and facial changes; however, there is no webbing of the neck or sparse body hair. |
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The amount of air normally inspired (inspiratory volume) with each breath
Averages approximately 500 mL at rest |
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| X-linked recessive diseases are more common than X-linked dominant diseases. Most sex-linked diseases occur on the X chromosome, as the Y chromosome does not carry as many genes. Females are less likely than males to carry an X-linked recessive disease. They have two X chromosomes-one from their mother and one from their father-and, thus, are usually heterozygous for the gene rather than homozygous. Because most X-linked diseases are recessive, females would have to receive two defective chromosomes, which is rare. Males, however, have only one X chromosome, which comes from their mother, and there are no genes on the Y chromosome to counteract that recessive gene; thus, they are more likely to have X-linked recessive genes. |
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| Aldosterone is a minerocorticoid secreted from the adrenal gland that is located on the kidney. Aldosterone is secreted when potassium is increased or sodium is decreased. Therefore, it makes sense that aldosterone increases sodium reabsorption to increase a depleted supply. It also increases potassium secretion. |
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| Hyperchloremia is usually related to an underlying disorder, and therefore, treatment is centered on the underlying disorder. It usually occurs with an increase in sodium and a deficit of bicarbonate. There are normally no specific symptoms associated with this syndrome. |
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| A decrease in pH and bicarbonate occur with metabolic acidosis. Additionally, metabolic acidosis causes deep and rapid breathing, as the body tries to compensate by removing carbon dioxide. Metabolic alkalosis occurs if pH and bicarbonate levels are elevated. Respiratory acidosis occurs when pH is decreased and carbon dioxide is elevated, whereas respiratory alkalosis occurs when pH is elevated and carbon dioxide is decreased. |
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| A common cause of the increased filtration of fluid from capillaries and lymph into surrounding tissues (edema) includes |
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| Forces favoring filtration |
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| capillary hydrostatic pressure and interstitial oncotic pressure |
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| Forces opposing filtration |
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| capillary oncotic pressure and interstitial hydrostatic pressure |
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| (forces favoring filtration) – (forces opposing filtration) |
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If capillaries allow protein to leak out |
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–Fluid shifts to interstitial compartment, causes swelling and edema
–Patient will be hypovolemic because we measure the fluid volume in the vascular compartment |
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Fluid shifts fluid out of capillary because of hydrostatic pressure, causes edema |
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