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• Brightly stained thread like structures observed microscopically in the nuclei of plant and animal cells. • Each species has a characteristic number, usually in matched pairs, except of the sex chromosomes. |
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Chromosomes are cellular entities responsible.... Example |
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for transmitting the genetic information from parent to offspring. • Genetic content as well as dosage important: e.g. Down syndrome. |
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Genes are located on Chromosomes • Early observations: – Microscopic visualization of_____ , and movement of_____ within gametes. – Evidence that nucleus of gametes played an important role in ______ and ______formation. – Fertilization was recognized as a... – Linkage of sex of an organism with ... – Chromosomal movements mimicked behavior of genes as per... |
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-gametes, chromosomes -fertilization, zygote -fusion of male and female gametes -sex chromosome type - Mendel’s laws. |
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-female (Turner) -male (Kleinfelter |
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Birds : female = ; male = |
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Fertilization: During gamete formation, germ cells undergo _____to generate ______; this accounts for the ______ of genes as proposed by Mendel. |
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-Meiosis, gametes, segregation |
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• When male and female gametes reunite, the resulting fertilized egg is . |
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• The fertilized egg has a full complement of ______, and gametes come together obeying Mendel’s law of _______ |
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paired chromosomes, independent assortment |
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• Cell division during subsequent embryonic development and in adult organisms occurs via _____, when total genetic information is _____ before it is split up into________ |
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Mitosis, doubled, individual daughter cells. |
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In 1903,_______proposed that chromosomes carry the hereditary units described by Mendel. |
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Evidence of Inheritance of genes correspond with chromsomes: – Two copies of.... – Total chromosome #... |
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-chromosomes and hereditary units. -maintained in every generation. |
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– Chromosomes assort at ______of the others. Evidence of Inheritance of genes correspond with chromsomes: – Gametes have half the number of chromosomes: |
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-each pole independently -one each rather than a pair of each. |
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Evidence of Inheritance of genes correspond with chromsomes: – At fertilization, the two gametes fuse... – In cells derived from the fertilized egg... |
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-causing the chromosomes to pair up again. half the chromosomes are from the father, and half are from the mother: similar to hereditary material. |
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Thomas Morgan attempted to correlate transmission of a specific trait with transmission of a specific chromosome: – Trait: – Chromosome: – White-eyed male crossed to pure bred red eyed female. (Cross A). F1 ... – Self cross of F1 (Cross B): |
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-Drosophila eye color -X-chromosome (sex-linked transmission). -were all red eyed. -F2 females were all red eyed, but males were ½ red, ½ white eyed |
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Morgan's cross C Cross C: a cross between the white male from F2 and the red-eyed (heterozygous) female from F2: Offspring are 50% red eyed, 50% white-eyed.... (analogous to a test cross) |
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Cross D: a cross between a white eyed female and a red eyed male: • Crosses C and D are |
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-all females were red eyed, all males were white eyed. (crisscross inheritance). -reciprocal crosses |
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Morgan's cross Data do not obey typical Mendelian inheritance pattern since males and females are not transmitting traits equally: – Reciprocal crosses are not ____ – ___ inheritance |
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– Morgan hypothesized that the gene/allele causing white eyes was on the... – Males carried only one X chromosome: they were_______for the eye color gene. |
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- X-chromosome. -hemizygous |
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Nondisjunction: – Morgan’s student, Calvin Bridges, repeated Morgan’s crisscross inheritance experiment on a much larger scale. |
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– Most females were red eyed; mostmales were white eyed. – A few white-eyed female offspring resulted. |
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He hypothesized that this was because of a mistake in meiosis caused by improper separation of the X chromosome. |
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– Bridges analyzed the chromosome content of the white eyed females.. |
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and indeed found that these flies had one extra X, confirming his hypothesis. (remember, in flies, XXY is a female, not a male) |
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X-linked recessive traits: |
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– Incidence much higher in males – Never passes from father to son; father may pass on bad allele to all daughters, making them carriers. – Often appears to skip a generation. – Carrier females transmit to sons with 50% probability; daughters have 50% probability of becoming carriers. Colorblindness, hemophilia |
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X Linked dominant traits in Humans |
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– Affected males produce all affected daughters and no affected sons. – A heterozygous affected female will transmit the disease to half her children, males and female offspring being equally affected. – On an average twice as many females as males are affected: females have two alleles, either may be affected, therefore twice the probability. • Example: Hypophosphatemia: a disorder causing vitamin D resistant rickets. |
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