Clinical Cytogenetics And Dna Cloning/isolation

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conventional techniques used in cytogenetics use_____ and _____

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T cells from peripheral blood
inhibits cells during mitosis and breaks them apart and do a metaphase spread

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molecular cytogenetics technique called

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FISH

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FISH uses___ and ____ to find

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isolated DNA to run tests using small DNA probes to find different abnormalities

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FISH is good to identify

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abnormalities- inversions, deletions etc.

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hybridization array measures

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loss or gain of genomic material

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constitutional abnormalities are present in

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embryo and zygote

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constitutional abnormalities occurs

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in all of our cells, unless a mosaic is present

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constitutional abnormalities can be found with

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prenatal diagnosis
adults with infertility

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example of constitutional abnormalities

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down syndrome

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aquired abnormalities are

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aquired later in life in somatic cells

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examples of aquired abnormalities

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lukemia and lymphoma
solid tumors
translocations

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three trisomy syndromes

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+21, +18, +13

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all trisomys are associated with

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advanced maternal age

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clinical features of trisomy 21

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moderate mental retardation
upslanting palpebral fissures
flat nasal bridge
low set ears
protruding tounge
congenital heart disease (1/3)
duodenal atresia

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robertsonian translocation

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translocation in two acro chromosomes

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Trisomy 18 causes

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ocassionally tranlocation
ocassionally mosaic

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Trisomy 18 clinical conditions

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mental retardation-severe heart defects
prominent occiput, receded jaw
clenched fists with digits overlapping
rocker-bottom feet

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trisomy 13 is also called

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patau syndrome

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clinical features of trisomy 13

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severe mental retardation
severe heart/urogenital defects
microcephaly and cleft lip/palate
polydactyly
rocker bottom feet
may expire within 6 months

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klinefelter syndrome

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47
XXY

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conditions of klinefelters

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follicle-stimulation hormone is consistently elevated
dysgenesis of the testes- atrophic tubules, reduced spermatogenesis

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Turner Syndrome

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X 45

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clinical features of Turner Syndrome

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short stature
webbed neck
broad shield- like chest with widely spaced nipples
lymphadema
low hair line
streak gonads
cardiac abnormalities
urological anomalies- horseshoe kidney

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Cri Du Chat

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5p- syndrome
high pitched cry
mental retardation

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22q11.2 syndrome

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cranial-facial anomalies, mental retardation and heart defects

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prader-willi

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deletion in chromosome 15
deletion is paternally derived

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reason for DNA cloning

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diagnosis of disease and better understand the patient's affliction

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most DNA-based diagnostic tests require

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DNA sequence inf or at least the ability to isolate and manipulate specific DNA sequences

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cloning DNA requires the use of

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restriction endonucleases

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restriction endonucleases

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cut DNA in a sequence fashion

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after cutting DNA, the ends are either

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blunt or staggered

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reason for DNA cloning

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diagnosis of disease and better understand the patient's affliction

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most DNA-based diagnostic tests require

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DNA sequence inf or at least the ability to isolate and manipulate specific DNA sequences

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cloning DNA requires the use of

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restriction endonucleases

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restriction endonucleases

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cut DNA in a sequence fashion

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after cutting DNA, the ends are either

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blunt or staggered

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4 base pair cutters

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recognizes specific sequences in 4bp sequences in DNA and would cut a random sequence producing DNA fragments that are in average 256bp

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EcoR1 is a

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6 base cutter

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EcoR1

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recognizes palindromic sequences and leaves 5' overhangs
suited for creating recombinant DNA molecules

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Pst1

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leaves single 3' overhangs

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HaeIII

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leaves blunt ends without specificity

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smallest DNA carriers

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plasmids and phages

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largest DNA carriers

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cosmids and YACs

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vectors have

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antibiotic resistance genes
unique restriction enzyme cleavage sites
origin of DNA replication for propagation in E coli

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both vector and DNA must be

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cut by the same restriction enzyme

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bacteria are transformed

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with the recombinant plasmid
this is how the DNA gets into the cells

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the bacterial cells are plated and

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grow into colonies which each contain a different recombinant DNA
the DNA has been cloned

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genomic library contains

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gragments of genomic DNA

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use _____ when using genomic library

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bacteriophage lambda

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genomic library of human DNA fragments in which

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each phage contains a different human DNA sequence

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cDNA

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contains DNA copies of cellular mRNAs

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there are no ___ in cDNA

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promoters, introns, or other regulatory regions

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cDNA synthesis requires

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reverse transcriptase

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the reverse transcriptase is packaged into

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retrovirus particles

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retroviruses are viruses that

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have RNA genomes that must be copied to DNA to be integrated into the host cell genome

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_____ are hybridized to ______ to serve as a primer for RT

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oligo(T) primer to the 3' end of all the mRNAs to serve as a primer for RT

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RNase H is used to

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remove most of the original RNA leaving behind short RNA which is used as primers for 2nd strand synthesis

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cDNA clones are more useful than genomic clones fo

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deducing the amino acid sequence of a full-lentgh protein

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plaque hybridization

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one technique for screening genomic or cDNA liaries that are constructed in phage vectors

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plaque hybridization steps

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plate phage library on a lawn of E Coli
plaques will form as a consequence of spreading lytic infection starting with a single phage-injected bacterial cell

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each phage plaque is a

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clone of indentical recombination phage

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a replica is

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made on nitrocellulose sheet and the DNA is denatured and adheres to the nitroellulose

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the nitrocellulose

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is hybridized with labeled DNA probe

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the probe will only hybridize

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to clones containing complementary sequences

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the nitrocellulose is then

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exposed to X-ray film