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17bio5785
CU intro to bio: lecture 17
| Question | Answer |
|---|---|
| Genes | are units of information about heritable traits. |
| Alleles | .are slightly different molecular forms of the same gene, which are shuffled during meiosis. |
| A wild-type allele is | a gene's most common form; a less common form of the gene is the mutant allele. |
| autosomes, | Men and woman carry the same type of chromosomes #1-22. These are called autosomes |
| sex chromosomes - | The 23rd pair of chromosomes determines the gender of the individual. Therefore, this pair is referred to as the sex chromosomes |
| The Y chromosome carries a male-determining gene called the __________ . This gene leads to the formation of testes; testes are the organs that secretes testosterone | SRY (Sex-determining Region on the Y chromosome) gene. |
| A karyotype is | a preparation of an individual chromosomes. |
| is a benign abnormality that does not affect persons to the point that reproduction is impossible; the gene is passed on in heterozygotes | Achondroplasia (dwarfism)- |
| This disease is a serious degeneration of the nervous system with an age of onset beyond the mid-thirties, by which time the gene has (usually) been passed from parent to offspring unknowingly | Huntington disease: |
| this disease is an example of autosomal recessive inheritance in which a single gene mutation prevents the synthesis of an enzyme needed in the conversion pathway | Galactosemia (the inability to metabolize galactose). |
| progeria syndrome | Premature aging. In 1 out of 8 million newborn humans, a mutant autosomal allele will cause accelerated aging. Observable symptoms appear by age two: skin thins, skeletal muscles weaken, bone growth ceases, hair loss is noticed, an "old look" is obvious |
| Duplication - | occurs when DNA sequences are repeated two or more times; unequal crossovers at prophase I can cause duplications resulting in neural problems and physical abnormalities.1 |
| Deletion - | the loss of a portion of a chromosome. Deletions usually cause serious disorders and are often lethal. They can be caused by unequal crossovers, chemical attack, or other reasons. |
| Inversion - | an alteration in the position and sequence of the genes so that gene order is reversed. |
| Translocation - | occurs when a part of one chromosome becomes attached to another chromosomeevers. |
| Aneuploidy | s a condition in which the gametes or cells of an affected individual end up with one extra or one less chromosome than is normal, (monosomies and trisomies are examples) |
| Polyploidy is | the presence of three or more of each type of chromosome in gametes or cells. It is common in plants but fatal in humans. |
| trisomy | If a gamete with an extra chromosome (n+1) joins a normal gamete at fertilization, the diploid cell will be 2n+1; this condition is called trisomy. |
| monosomy | If an abnormal gamete is missing a chromosome, the zygote will be 2n-1, monosomy. |
| Trisomy 21 ( | Down Syndrome) Most children with Down syndrome show mental impairment, and 40% have heart defects.omos |
| what makes studying genetics difficult? | variable conditions, diverse enviornments, mate or dont mate, humans live as long as those who study them, small family sizes are not sufficient for meaningful statistical analysis. |
| pedigrees | .a chart that shows genetic connections among individuals. |
| Data on human inheritance is displayed in | pedigrees. |
| Genetic abnormality is a term applied to a genetic condition that is | a deviation from the usual, but is not life threatening. |
| Genetic disorder is more appropriately used to describe conditions that | cause medical problems.. |
| A syndrome is | a recognized set of symptoms that characterize a disorder |
| Nondisjunction - | occurs at either anaphase 1 or 2. |
Created by:
jseekins
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