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Patho

Genetic process and alterations

QuestionAnswer
The Cell cycle 2 phases Interphase Mitosis Interphase: Normal cellular fxing Mitosis: reproductive phase where 2 exact daughter cells produced
Interphase 2 gap phases and synthesis phase synthesis phase: where DNA is duplicated
Chromatin uncoiled strands of DNA found in interphase
prep for mitosis starts with synthesis of DNA replicated in synthesis phase then coiled around histones to form chromosomes. DNA is seen as chromosomes in Mitosis and meiosis
Centromere joins two chromatids in center. Landmark to id one chromosome from another. location can chagne. Chromatids: two duplicate strands of DNA to form chromosome. One will move to each daughter cell.
4 phases of mitosis prophase, metaphase, anaphase, telophase
Mitosis cellular division. By first phase, all organelles and dna have been duplicated
prophase nuclear env disappears, spindle fibers form and attach at chromosomes at centromeres
metaphase chromosomes align at equatorial plate by centromeres. Easiest to id by microscope in this phase
anaphase centromeres split to make separate chromatids and spindle fibers pull them to opp poles of ea cell
telophase new nuclear membranes form around ea set of 46 chromatids now known as chromosomes. They uncoil to form chromotin and cytokinesis occurs producing 2 daughter cells ea with diploid number of 46 chromatin strands
Meiosis Haploid number process done only in reproductive organs Haploid: produces gametes resulting in half of number of chromosomes 23 from mother, 23 from father
two cellular divisions Meiosis I: reduction to haploid number Meiosis II: divide like mitosis
phases of meiosis I phases of Meiosis II I: pro, meta, ana, telo II: meta, ana, telo
Meiosis I, reduction phase sister chromosomes align (mom 1 with dad 1), crossing over happens, centromeres don't split just the pairs of chromosomes
What is crossing over exchange of genetic material in sister chromosomes (mom1 and dad1)
By end of Meiosis I two daughter cells produced with ea 23 chromosomes
Beginning of Meiosis II, mototic division mitotic division results of 4 gametes ea w/ 23 chromosomes
gene seq of DNA in chromosome that codes for specific protein or specific piece of genetic info
locus position along chromosome that spec. gene is located
allele diff forms of genes on same gene locus, eye or hair color
codon (triplet codon) seq. of three nucleic acid bases that code for spec amino acid. 20 diff aa
karyotype ordered display of chromosomes
DNA genetic code 4 necleic acids: adenine, thymine, cytosine, guanine replication by enzyme DNA polymerase
Altered genetic process mutations aneuploidy altered chromosomal structure
mutation probelms wtih genes not chromosomes, a segment of DNA that codes for a protein. Alteration in DNA seq and occurs during DNA replication in S phase before cell division. mutated DNA can be passed onto daughter cells or offspring in gametes
types of mutation: base pair or frameshift base pair: replacement of single base pair by diff base pair frameshift mutation: 1 or more base pairs inserted or deleted from DNA seq
Aneuploidy euploid cells with multiples of normal number of chromosomes haploid: 23 normal gamete diploid: 46 normal somatic cell
polyploidy abn cells contain multiples of euploid number (3x: triploid fetus: 69 or 4x: tetraplid fetus: 92) Cannot survive
aneuploid Can survive, do not contain euploid no.
polysomy trisomy monosomy p: extra copies of chromosomes t: 1 extra copy of chrom m: only 1 copy of chrom, usually not survive EXCEPT with female inf. w/ monosomy of X chrom
Cause of aneuploidy nondisjuntion: failure of separation of chromosomes during cellular reprod. In meitotic div = gametes w/ abn no. of chrom(aneuploidy). Duplication is more survivable than deletion of genetic mat.
Mosaic Aneuploidy special case where duplication or deletion of genetic matierial is not present in all cells May be result of nondisjx during mitotic div after fertilization
example of autosomal aneuploidy trisomy 21 (Down's syndrome), incr with maternal age 13 or 18 tend to die
features of trisomy 21` low nasal bridge, low set ears, simian creases, epicanthal folds, protruding tongue, mental retardation, cardiac defects
Ex of Aneuploidy of sex chromosomes Turner Syndrome: 45 chromosomes with monosomy of X (monosomy) Klinefelter syndrome: extra X chrom, 47 XXY
Types of altered structure deletions, duplications, inversions, translocations Can happen in crossing over phase, not always. Silent passed to children and loss of genetic material usually ends in death
Ex of chromosomal deletion Cri du chat syndrome: deletion of short arm of chrom 5 high pitched cry, low birth wt, microcephaly, cardiac defects, severe mental retardation
Patterns that genetic inheritance and how alterations are transferred to offspring not all inherited from parents Homozygous: 2 alleles from mom/dad r identical(ex: both genes code for blue eyes, AA) Heterozygous: 2 alleles not identical (Aa). One is dominant A, other recessive a. Can express dominant and carry recessive
genotype phenotype g: actual genetic code in DNA p: appearance or fx of individual. Can be influenced by env, not all predetermined by genetic structure
Ex of environmental influence of phenotype phenylketonuria (PKU): inborn error of metabolism, lacks ability to metabolize phenylalanine. On long arm of chrom 12. Both recessive genes severe, but reduced with dietary restriction, so phenotypic expression is influenced
4 main patterns of genetic inheritance autosomal dominant autosomal recessive x-linked dominant x-linked recessive
autosomal dominant transmission Dd affected x Dd affected Dd Affected x dd normal Affected: DD, Dd, Dd Normal: dd Affected: Dd, Dd Normal: dd, dd
Common autosomal dominant disorders marfan syndrome, connective tissue weakness, fibrilin, risk for aorta tear neurofibromatosis Huntington's disease, Chorea, progressive dementia
Autosomal recessive transmission Dd x Dd homo DD normal, hetero Dd carrier, Dd hetero carrier, dd homo affected
Ex. autosomal recessive inheritance cystic fibrosis Most common mutation: Delta 508 from deletion of triplet code for phenylalinine phenylketoniuria Tay-sachs disease: fat cells sickle cell: hemoglobin molecules
Ex. X-linked dominant inheritance hypophasphatemic rickets: defective protein in kidney, decr phosphate
X-Linked Recessive transmission XHXh x XHY XHXH x XhY XHXh x XhY more common affected: XhY, carrierXHXh, norm XHXH, XHY aff: none, carrier XHXh, XHXh, norm XHY aff: XhXh, XhY, carrier XHXh, norm XHY
Ex. X-linked Recessive inheritance Duchenne Muscular Dystrophy absent protein dystrophin which maintains structural integrity so get muscle wasting
Other X-linked Recessive disorders Hemophilia A Glucose-6-Phosphate Dehydrogenase deficiency (G6PD) Agammaglobulinemia color blindness
What is threshold of liability no of defective alleles need to be present for disorder to be phenotypically expressed, may differ with gender
What is the human genome project Determines location of many genes that code for disorders. It maps specific genes to spec disorders. Gene therapy is experimental, not very successful.
Created by: palmerag