gen mini 1b

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sweetlu
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104879
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gen mini 1b
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2011-12-09 14:20:21
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gen mini1b
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  1. lyonization
    • -inactivation of X chromosome
    • -only seen with >1 X chromosome (NO MALES)
    • - can happen at 2-10,000 cell stage, so females can be mosaics of both X chromosomes, depending when it was deactivated, ex X-linked anhidrotic dysplasia
  2. karotype
    an ordered display of all chromosomes from one cell
  3. postition of centromere
    meta- roughly the middle

    submeta- uneven, shorter p arms than q arms

    acro- centromere basically at top, all that is above the centromere are satellites (rDNA)
  4. shortest chromosome
    21
  5. dark G bands (5)
    • later replication
    • fewer active genes
    • more condensed
    • higher A-T bp
    • stain with quinacrine and light with R-banding
  6. only viable trisomys
    13,18,21, X and Y
  7. only viable monosomy
    X
  8. acrocentric chromosomes
    13, 14, 15, 21, 22
  9. isochromosome
    • chromosome with 2 identical arms
    • can be partial monosomy or partial trisomy
  10. ring chromosome formation
    if a chromosome loses both telomeres (or double strand break on both ends) the ends will fuse and cause a circular chromosome
  11. robertsonian translocation
    • can cause a chromosome with 2 (or 0) centromeres (0 is lost)
    • if have 2 centromeres, can still function as a single chromosome
  12. early tx for downs syndrome
    if thyroid levels are normalized early, symptoms can be helped
  13. APP gene
    on chromosome 21, is thought to be involved in early senility of Downs syndrome pts due to over expression
  14. master controller of gender
    • SRY on the Y chromosome
    • if absent default p/w is female development
  15. other genes that determine sexual phenotype
    • SOX9 and AR
    • -mutations will lead to expressionof female phenotype
  16. true hemaphrodite
    most are 46XX with an SRY translocation
  17. chimera
    fusing of 2 fetilized eggs to make a single organism
  18. 11-hydroxylase or 21- hydroxylase defeciencies
    • - over production of androgens, due to blocked syn of corticosteroids
    • -cause adrenogenital syndrome- female with virilized (man-like) characteristics
    • -HYPO-Na and HYPER-K often seen
    • - tx with cortisol (for feedback inhibition of ACTH from pituitary) and surgical reconstruction (later in life)
  19. 11-hydroxylase inactive, but 21-hydroxylase is partially active
    can cause very high levels of deoxycorticosterone, which causes opposite Na and K problem
  20. Androen Insensitivity syndrome
    • 46, XY, externally and psychosocially female
    • X-linked rec, androgen receptor defect
    • "Male Intersex A"
    • - no uterus,fallopian duct or wolfian structures and undescended testes
  21. 5 alpha-reductase defeciency
    • 46, XY
    • wolfian structures present, testes often undescended, hppospadia sometimes
    • - no conversion of testosterone (less active) to dihydroxytestosterone (more active)
    • -many raised as females until puberty
  22. stimulation to move from G0 to G1
    GF signal nucleus to turn on cyclin D, which binds Cdk4 and Cdk6 to activate them, which PO4 Rb causing it to release E2F
  23. G1-S phase cyclin-Cdk
    • cyclin E- Cdk2,
    • cyclin E is upregulated by E2F after release from Rb-PO4
  24. S phase
    cyclin A- Cdk 2
  25. G2-M
    • cyclin B- Cdk1- MPF
    • cyclin A- Cdk1- progression thru G2
  26. CKI-p16
    controls G1/S restriction by binding Cdk4/6 and preventing cycle progression
  27. Rb
    binds E2F preventing S phase progression, when PO4 by Cdk4/6/cyclin D, it will release E2F, which then upregulates cyclin E allowing progression to S phase
  28. mitosis promoting factor
    • MPF= Cdk1/cyclin B
    • will move cell cycle into mitosis phase
    • *activity related to [cyclin A] and [cyclin B]*
  29. Cdc25
    • phosphatase that removes inhibitory PO4 from Cdk1, to allow progression into M phase
    • -if DNA is damaged Cdc25 is inactivated, arresting the cell cycle
  30. WEE1
    will PO4 Cdk/cyclin inactiving them. Cdc25 has opposite affect
  31. seperase
    • removes cohesion allowing sister chromatids to be pulled apart (anaphase)
    • _must be dePO4 by Cdc20 to be activated
  32. APC
    • a ubiquitin ligase
    • -Cdc20 dePO4 to activate it
    • -ubiquitinates cyclin B
  33. 3 major technologies that made recomb DNA possible
    • -restriction endonucleases
    • -cloning capability (amplification)
    • - probes (for ID)
  34. palindrome sequence
    • same sequence when read 5'-3' or 3'-5' on both strands
    • -target of restiction endonucleases
    • - methylation will protect pallindromes from RE
  35. 3 things that need to be included in a vector if you want bacteria to express(make proteins) the gene of interest
    • -5' promoter
    • - Shine-Dalgarno is correct place in 5' UTR (so start codon places in the P-site
    • -termination sequence placed after the gene
  36. ASO probes
    • allele specific probes
    • -can be used to target specific alleles of a gene, which can be used to determine if a patient has a mutant gene and whether they are homo or heterozygoud for it.
  37. penetrance
    % of those with the allele that will show the phenotype
  38. sex limited
    influence traits of one sex or traits influenced by sex hormones
  39. variable expressivity
    difference in age of onset or severity for a seemingly identical genotype
  40. heterogenicity
    • different alleles at the same locus produce different diseases
    • -can be different alleles that cause the same nonfunctional gene in different ways
  41. pleiotropy
    -mutation of one gene having >1 effect or >1 physiological system effected
  42. 3 controls of the cell cycle
    • - anchorage
    • -contact inhibition
    • - mitogen cofactor dep't

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