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127 Cards in this Set
- Front
- Back
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what's the type of chromosomal abnormality
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constitutional abnormality
somatic abnormality |
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when and where does the constitutional abnormality occor?
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all cells of the body
early in developement, result of abnormal sperm or egg, or very early embryo. |
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what is mosaic
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somatic abnormality
contains cells with different chromosome constitutions, with cells from the same zygote. |
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what's the classes of numerical chromosomal abnormality
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polyploid: aneuploid
mixoploid |
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what's the polyploid include
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triploid-two sperms fertilize one egg
tetraploid-DNA duplication, no cell division |
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what's aneuploid ,euploidy
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euploidy-all chromosomes
aneu-an extra copy or missing from euploid |
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what's the mechanism of aneuplod
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nondisjuction
anaphase lag分裂后期延滞 |
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nondisjuction in mitosis produce___
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mosaic
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what's mixoploid
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one dividual has 2or more genetically different cell lineages
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what dose mixoploid include
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mosaicism-from one zygote
chimerism-from different zygotes |
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whose clinical consequences of numerical abnormality are more serious, sex chromosome or autosome
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autosome, lethal
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what's the reason of structure chromosormal abnormality
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misrepair of chromosome bread
malfunction of recombination system |
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which structure chromosomal abnormalities are unstable
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acentric
dicentric |
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what's the isochromosome等臂染色体
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arise from abnormal U type exchange between sister chromotids just next to the centromere of a chromosome. consists of either two p arms and 2 q arms.
symmetric |
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which structure chromosomal abnormalities have one break
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terminal deletion
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which stucture chromosomal abnormalities have 2 breaks
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1 chromosome: interstitial del,inv, ring,
2 ch: reciprocal translocation robertsonian translocation |
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which have 3breaks
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1 ch:inv+del, intrachromosomal insertion
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why robertsonian translocation is stable with 2 centromeres presented
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they function as one
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balanced structure chromosomal abnormality
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inversion, balanced translocation(reciprocal and rovertsonian)
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unbalanced struccture ab
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del,dup,
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uniparental diploidy is seen in__
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hydatidiform moles葡萄胎
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abnormal conceptus with 46,xx karyotype of exclusively(only) paternal origin is __
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hydatidiform mole
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what's the cause of uniparental disomy（upd）单亲二倍体
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trisomy rescue三染色体自救
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UPD involves __
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isodisomy-identical homologs
heterdisomy-derived from both homologs in one parent. |
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When two people with AR congenital hearing loss marry, their children most often have normal hearing, that's an example of ___
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complementation
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what's nonpenetrance
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failure of a dominant condition to manifest
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a dominant character is manifest in a heterozygous person, so the penetrance is__
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100%
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a normal person having parents with dominant disease, so does he/she have the risk to have affected child
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yes, because nonpenetrance
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example of age-related penetrance in late-onset disease
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Huntington
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what's the reason of late-onset disease
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slow accumulation of a noxious substance
slow tissue death imrepair of some form of enviromental damage |
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what's the typical problem of doominant diseases
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nonpenetrance
variable expression |
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what's anticipation
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describes the tendency of some variable dominant conditions to become more sever in successive generations
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examples of anticipation
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huntington
fragile X, myotomic dystrophy |
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what's the sex bias in x linked dominant
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only see affected females
because affected males are dead before birth |
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mutation in germline can cause ____inherited disease in a child
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de novo
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bulk of the mitochondrial polypeptides are encoded by ___and are synthesized on ___, before being import to mitochondria
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nuclear
cytoplasmic ribosomes |
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where are pseudogenes and gene fragments from
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gene duplication
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what's the total number of pseudogenes
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20,000
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a sizable component is organized in tandem head-to-tail repeats, but the majority consist of interspersed repeats which have originated from RNA transcripts by____
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retrotransposition
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what's the characteristics of mitochondrial genome's structure
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double strand
circle 16,569 bp in length 44% GC heavy strand-rich in G light strand-rich in C a smal section show triple-DNA strand no introns overlapping |
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what's the triple-DNA strand of mitochondrial genome from
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repetitive synthesis of a short segment of heavy strand DNA---7S DNA
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what's the other name of triple DNA strand
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D-loop
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where is the transcription promoters of mitochondria
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D-loop
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what are the direction of transcription of H or L strands
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H-clcckwise
L-anticlockwise |
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the component of mitochondrial genome
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22 tRna
2 rRna-23r and 16r 13 encoding |
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which is the sense strand in mitochondria,H or L
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28of 37 are H
other are L |
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stop codes
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uaa,uag
aga, agg |
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how many mitochondrial sense codes?
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60
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what's the function of third base wobble
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differ only at the third code
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% of coding DNA in nulcear and mitochondria,
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1.5
93 |
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the gene density of nuclear and mitochondria
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1/100
1/0.45 |
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dark G bands are____GC content
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low
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5-methylation of CpG is deamination to____
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T
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which rRna are encoded by single transcription unit
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28s,5.8sand 18s
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where is the single transcription unit
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ch13,14,15,21,22
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who involved in Rna splicing
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snRna
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who involved in Rna modification and processing
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snoRna
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what are the classes of replicative transposition
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LINEs
SINEs(Alu) LTRs |
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which enzyme the trancription process use
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DNA-dependant RNA polymerase
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the direction of transcription
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5 to 3
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the RNA polymerase enzymes classify and fuction
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I-most rRna
II-all mRna and most snRna III-5srRna and tRna VI-mitochondria |
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3 levels of gene regulation control
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transcriptional control
post-transcriptional control epigenetic control |
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what the function of transcriptional control
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transcriptional initiation(cis and trans)
promoter selection |
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what's cis-action elements conclud?
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tata box
gc box caat box cAmp response element hormone response element |
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extended promoter include
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enhance
silencer-inhibit the transcription |
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proximal and core promoter's location
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-50~-200
-45~45 |
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tRna promoter is bipartite promoter that consist of _
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two well conserved sequences:A box and B box
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% of human promoter are bidirectional
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10
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the characteristics of bidirection promoter
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lack tata box
most coregulate expression of 2 genes single Rna polymerase site |
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example of bidirection promoter
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Factor VIII gene
F8A and F8B |
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what's the trans-actiong element
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factors which associate genes that are different from the ones they originate from
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examples of trans-acting elements
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transcription factor
coactivators corepressors |
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how the trans-actiong elements works
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bink the first intron of gene
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the function of trans
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modify the rate of transcription
modify the pattern of expression |
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transcription factors are divided into two groups, they are_
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general transcription group
sequence-specific |
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what's general transcription group fuction
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bind core promotor
control the expression of base |
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example of general transcription group
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tata box binding protein(TBP)
TBP associated factor |
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what's the function of sequence-special transcription group
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bind Dna regulator elements
modulate basal expression |
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example of sstg
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c-Jun, c-Myc,stat,pax,creb
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most tfs bind to Dna as__, which dimerize via trancactivation domain
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homodimers
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what's the structure motifs found in Dna binding domain
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leucine zipper
zinc finger helix loop helix helix turn helix |
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alpha helix and beta sheet bind to ___of Dna
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major groove
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amino acid of alpha helix and beta sheet indicate___
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Dna-binding specificity
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why other protein which play an important role in the regulation of transcription can't be classified to tf?
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because they lack Dna binding domain
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other modulators of transcription include_
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co-activator
co-repressor histone modification chromotin remodelers Dna methylation |
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why histone modification can regulate transcription
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transcriptionally inactived Dna is organized in condensed chromotin, which tightly associated with histone
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histone modification includes___
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acetylation
methylation |
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what's histone acetyltransferase
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add acetyl to histone
active transcriptiong through reducing affinity of Dna and histone |
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what's histone deacetylase
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remove acetyl from histone
repress transcription |
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the difference between Dna and histone methylation is
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histone depend on residues methylated
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in histone, methyltransferase target______
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argine-activne trans
lysine-repressive trans |
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what's chromotin remodeling complex
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with ATPase activity
interact with methylated or acetylate lysine residues in histone result in repositioning of nucleosomes making Dna accessible to trans-acting protein |
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what are the mutation of trans
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me-rett syd
mll-all fox-dysphaxia tel-aml---leuk tfih-xeo tp53--li fa sry-pitu wti--wilm plm--apl von--retina cbfbeta-aml ig--lymphoma ews--ewing |
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promoter selection in transcription control is
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UDP-glucuronosyltransferase1A
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what's the primary products of mRna transcription
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hnRna
or primary transcript |
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where is the primary products in
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nucleus
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the nuclear processing of hnRna
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add 5' G cap
methylation of 7' of G cap cleavage of 3' add poly A splicing to remove introns Rna edit |
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what's the fucntion of 7' methyl G cap
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protects transcription degradation
facilitates transport to cytoplasm facilitates Rna splicing coordination attachment of ribosome |
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what's the function of poly A tail
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protects 5'-3' exonuclase activity
facility transportion to cytoplasm stabilize mRna molecular facilitate translation |
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what happened when poly A signal mutate
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reduce globin expression in beta-thalassemias海洋性贫血
mRna stability may alter |
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example of mutation of poly A tail
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Burkitt's lyphoma
t(8;14)translocates MYC gene to Ig gene promoter |
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what' s the 5' splicing site and 3' splicing site in Rna splicing
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gu
ag |
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what's Rna editing
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the mRna sequence changed when post-transcription control, so the amino acid sequence of the encoded is changed.
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what's the substitution editing
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deamination of C to U
A to I |
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the substitution mRna editing in human is
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APOB gene transcript
Glutamate receptor B-subunit A transcript |
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mutation in deamninases will cause___
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AID gene(actived-induced cytidine deaminase)
high Ig M, low other Igs |
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epigenetic control includes ___
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Dna methylation
histone modification |
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what epigenetic methylation cause?
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monoallelic expression or imprinting
cell memory |
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what assist the binding of ribosome in the translation
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5'and 3' UTR, 5' cap, 3' poly A tail
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what's the function of 5' and 3' UTR in translation
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5' regulate rate of translation
3' controling the stability of mRna |
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the machanism of microRna interfere with mRna translation
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miRna binds 3' UTR
inhibation translation degradation of mRna |
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miRna can be used to diagnose because
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its expression pattern differs
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what's the function of Dna polymorphisms
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identify individuals
identify and track individual chromosomal loci |
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examples of allelic heterogeneity
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CFTR
cystic fibrosis transduction receptor |
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examples of locus heterogenety
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skeletal dysplasias--collagenII and XI
tuberous sclerosis--TSC1and2 family brease cancer--BRCA1and2 spinocerebellar ataxias--SCA1,2,3,6,8,7,12 |
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examples of clinical heterogeneity
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beta-globin--sickle cell
beta thalassemia PMP22-- collagen II--stickler kniest |
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mitochondrial disorder is
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pleiotrophic
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mechanism for imprinting
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differential methylation of chromosomal regions and regulatory elements
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examples of genomic imprinting
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prader-willi---15q11-13from paternal
angelman----same from maternal |
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examples of AD
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Mafan, NF1, achondroplasia, myotonic dystrophy, family amyloidosis
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what's compound heterozygotes,
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same location, different allele
AR occure in |
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examples of AR
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CF, Tay-Sachs, AR deafness, galactosemia, phenylketonuria
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example of XLD
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Rett syndrom---Mecp2
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examples of XLR
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G6PD deficiency
hemophilla A Turner syndrom skewed X-inactivation |
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genes on ch Y
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azoospermia factor
sex determing-region Y factor |
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smallest structural abnormalities visible by standard cytogeneticsis__
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4mb
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example of chromosomal deletion
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Cri-du-chat syndrom
del(5p) Gilomas del(1p,19q) |
