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DNA Fingerprint
DNA Profiling
DNA profiling : identification of individual by use
their respective DNA profile.
DNA profile : a set or sets of DNA repeat
sequences that reflects genetics makeup of an
individual
Repetitive sequence : nucleotide repeats in
particular regions that are highly variable
(variation range 1->30) (variable number of
tandem repeats/VNTR or short tandem repeat
/STR)
2. PCR Analysis
Polymerase chain reaction (PCR) is used to make
millions of exact copies of DNA from a biological sample.
DNA amplification with PCR allows DNA analysis on
biological samples as small as a few skin cells. With
combination with RFLP, DNA samples would have to be
about the size of a quarter.
3. STR Analysis
Short tandem repeat (STR) technology is used to
evaluate specific regions (loci) within nuclear DNA.
Variability in STR regions can be used to distinguish one
DNA profile from another.
The Federal Bureau of Investigation (FBI) uses a
standard set of 13 specific STR regions for Combined
DNA Index System (CODIS). CODIS is a software
program that operates local, state, and national
databases of DNA profiles from convicted offenders,
unsolved crime scene evidence, and missing persons.
The odds that two individuals will have the same 13-loci
DNA profile is about one in a billion.
5. Y-Chromosome Analysis
The Y chromosome is passed directly from father to son,
so analysis of genetic markers on the Y chromosome is
especially useful for tracing relationships among males
or for analyzing biological evidence involving multiple
male contributors.
3. Personal Identification
The notion of using DNA fingerprints as a sort of genetic
bar code to identify individuals has been discussed. The
technology required to isolate, keep on file, and then
analyze millions of very specified VNTR patterns is both
expensive and impractical. Social security numbers,
picture ID, and other more feasible methods are much
more likely to remain the prevalent ways to establish
personal identification.
Technical Difficulties
Errors in the hybridization and probing process must also
be figured into the probability.
An innocent person should not be sent to jail, a guilty
person allowed to walk free, or a biological mother
denied her legal right to custody of her children, simply
because an experiment in-accurately.
When the analysis of the DNA sample involves
amplification of the sample (creating a much larger
sample of genetically identical DNA from what little
material is available), because if the wrong DNA is
amplified (i.e. a skin cell from the lab technician) the
consequences can be profoundly detrimental.
Standards for determining DNA fingerprinting matches,
and for laboratory security and accuracy which would
minimize error, were neither stringent nor universally
codified.
Prenatal Diagnostic
Prenatal diagnosis or prenatal screening is test
for diseases or conditions in a fetus or embryo
before it is born, to
1. enable timely medical or surgical treatment of a
condition before or after birth,
2. give the parents the chance to abort a fetus with
the diagnosed condition,
3. give parents the chance to "prepare"
psychologically, socially, financially, and
medically for a baby with a health problem or
disability, or for the likelihood of a stillbirth.
Methods
1. Non Invasive : USG, blood chemistry, cytogenetics
2. Invasive : villi choriales or amniotic fluid
Prenatal Diagnostic
Spinal muscular atrophy (SMA)
autosomal recessive neuromuscular disease
incidence 1 : 10,000; carrier frequency 1:50
muscle atrophy due to destruction of alpha motor
neuron in cornu anterior medulla spinalis
3 types based on onset and motoric function
Type I : < 6 month, unable to sit and walk
Type II : 6 18 month, able to sit
Type III : > 18 month, able to sit and walk
Subject
Methods
AF, CV, leukocyte
DNA extraction
Ag1CA Analysis
Termination
Continue : delivery, follow up until 18 month
Sample
Deletion Test
Ag1CA
CV
non del
confirm
II
III
IV
AF
CV
CV
non del
non del
del
confirm
confirm
confirm
V
VI
AF
AF
non del
del
confirm
confirm
del : termination
non-del follow up : normal delivery, development,
no symptoms of neuromuscular diseases
Non-deleted case
Nishimura Family SMN1 Exons 7, 8 and NAIP Exon 5 Deletion Test
AF
SMN1 Exon 7
SMN2 Exon 7
SMN1 Exon 8
SMN2 Exon 8
SMN2 Exon 8
Non-deleted case
Deleted case
Miyake Family SMN1 Exons 7, 8 and NAIP Exon 5 Deletion Test
Mk
AF
SMN1 Exon 7
SMN2 Exon 7
SMN1 Exon 8
SMN2 Exon 8
SMN2 Exon 8
Deleted case
Father
Mother
Patient
AF
Conclusion
Genetic Testing is a good method for parentage
testing and prenatal diagnostic
Qualitative Trait
Absence or presence of disease
Concordant : two individual in a family have the
same disease
Discordant : only one of a pair in a family has the
disease
Quantitative Trait
Measurable physiological quantities : blood
pressure, cholesterol level, BMI
Such variation due to genetic and non-genetic
factors.
Twin Study
Disease Concordance in Twin Study
powerful for determining whether
genotype alone is sufficient to produce a
disease in monozygotic or dizigotic twin
High concordance rate : epilepsy, DM type
1, osteoarthritis, psoriasis, cleft lip/palate