[GET] Using Blood Test To Identify Babies And Criminals Answer Key
One set of 23 chromosomes is inherited from the biological mother from the egg , and the other set is inherited from the biological father from the sperm. Of the 23 pairs of chromosomes, the first 22 pairs are called "autosomes. The mother and...
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In the past decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. The comparison can be used to find chromosomal abnormalities where the two samples differ. One such method is called noninvasive prenatal testing. This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. What are chromosome abnormalities? There are many types of chromosome abnormalities. However, they can be organized into two basic groups: numerical abnormalities and structural abnormalities. Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair, the condition is called monosomy. When an individual has more than two chromosomes instead of a pair, the condition is called trisomy.
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An example of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental retardation, learning difficulties, a characteristic facial appearance and poor muscle tone hypotonia in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than two; for that reason, the condition is also known as Trisomy An example of monosomy, in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one sex chromosome, an X, and is usually shorter than average and unable to have children, among other difficulties.
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Structural Abnormalities: A chromosome's structure can be altered in several ways. Deletions: A portion of the chromosome is missing or deleted. Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. Translocations: A portion of one chromosome is transferred to another chromosome. There are two main types of translocation. In a reciprocal translocation, segments from two different chromosomes have been exchanged. In a Robertsonian translocation, an entire chromosome has attached to another at the centromere. Inversions: A portion of the chromosome has broken off, turned upside down, and reattached. As a result, the genetic material is inverted. Rings: A portion of a chromosome has broken off and formed a circle or ring. This can happen with or without loss of genetic material. Most chromosome abnormalities occur as an accident in the egg or sperm.
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In these cases, the abnormality is present in every cell of the body. Some abnormalities, however, happen after conception; then some cells have the abnormality and some do not. Chromosome abnormalities can be inherited from a parent such as a translocation or be "de novo" new to the individual. This is why, when a child is found to have an abnormality, chromosome studies are often performed on the parents.
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How do chromosome abnormalities happen? Chromosome abnormalities usually occur when there is an error in cell division. There are two kinds of cell division, mitosis and meiosis. Mitosis results in two cells that are duplicates of the original cell. One cell with 46 chromosomes divides and becomes two cells with 46 chromosomes each. This kind of cell division occurs throughout the body, except in the reproductive organs. This is the way most of the cells that make up our body are made and replaced. Meiosis results in cells with half the number of chromosomes, 23, instead of the normal This is the type of cell division that occurs in the reproductive organs, resulting in the eggs and sperm.
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In both processes, the correct number of chromosomes is supposed to end up in the resulting cells. However, errors in cell division can result in cells with too few or too many copies of a chromosome. Errors can also occur when the chromosomes are being duplicated. Other factors that can increase the risk of chromosome abnormalities are: Maternal Age: Women are born with all the eggs they will ever have.
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Some researchers believe that errors can crop up in the eggs' genetic material as they age. Older women are at higher risk of giving birth to babies with chromosome abnormalities than younger women. Because men produce new sperm throughout their lives, paternal age does not increase risk of chromosome abnormalities. Environment: Although there is no conclusive evidence that specific environmental factors cause chromosome abnormalities, it is still possible that the environment may play a role in the occurrence of genetic errors. Related Contents.
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The complete test results show this correlation on 16 markers between the child and the tested man to enable a conclusion to be drawn as to whether or not the man is the biological father. Each marker is assigned with a Paternity Index PI , which is a statistical measure of how powerfully a match at a particular marker indicates paternity. The PI of each marker is multiplied with each other to generate the Combined Paternity Index CPI , which indicates the overall probability of an individual being the biological father of the tested child relative to a randomly selected man from the entire population of the same race. The CPI is then converted into a Probability of Paternity showing the degree of relatedness between the alleged father and child. The DNA test report in other family relationship tests, such as grandparentage and siblingship tests, is similar to a paternity test report.
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Instead of the Combined Paternity Index, a different value, such as a Siblingship Index, is reported. The report shows the genetic profiles of each tested person. If there are markers shared among the tested individuals, the probability of biological relationship is calculated to determine how likely the tested individuals share the same markers due to a blood relationship. Y-chromosome analysis[ edit ] Recent innovations have included the creation of primers targeting polymorphic regions on the Y-chromosome Y-STR , which allows resolution of a mixed DNA sample from a male and female or cases in which a differential extraction is not possible.
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Y-chromosomes are paternally inherited, so Y-STR analysis can help in the identification of paternally related males. Y-STR analysis was performed in the Jefferson-Hemings controversy to determine if Thomas Jefferson had sired a son with one of his slaves. The analysis of the Y-chromosome yields weaker results than autosomal chromosome analysis with regard to individual identification. The Y male sex-determining chromosome, as it is inherited only by males from their fathers, is almost identical along the paternal line. On the other hand, the Y-STR haplotype provides powerful genealogical information as a patrilinear relationship can be traced back over many generations. Furthermore, due to the paternal inheritance, Y-haplotypes provide information about the genetic ancestry of the male population.
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To investigate this population history, and to provide estimates for haplotype frequencies in criminal casework, the "Y haplotype reference database YHRD " has been created in as an online resource. It currently comprises more than , minimal 8 locus haplotypes from world-wide populations. Forensic scientists amplify the HV1 and HV2 regions of the mtDNA, and then sequence each region and compare single-nucleotide differences to a reference. Because mtDNA is maternally inherited, directly linked maternal relatives can be used as match references, such as one's maternal grandmother's daughter's son. In general, a difference of two or more nucleotides is considered to be an exclusion.
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Heteroplasmy and poly-C differences may throw off straight sequence comparisons, so some expertise on the part of the analyst is required. This can be determined by tooled placement in sample. The true reality, however, is quite different and perfect DNA samples are often not collected from the scene of a crime. Homicide victims are frequently left exposed to harsh conditions before they are found and objects used to commit crimes have often been handled by more than one person. The two most prevalent issues that forensic scientists encounter when analyzing DNA samples are degraded samples and DNA mixtures.
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DNA samples taken from crime scenes are often degraded, which means that the DNA has started to break down into smaller fragments. Victims of homicides might not be discovered right away, and in the case of a mass casualty event it could be hard to get DNA samples before the DNA has been exposed to degradation elements. Degradation or fragmentation of DNA at crime scenes can occur because of a number of reasons, with environmental exposure often being the most common cause.
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Biological samples that have been exposed to the environment can get degraded by water and enzymes called nucleases. Methods like restriction fragment length polymorphism or RFLP Restriction fragment length polymorphism , which was the first technique used for DNA analysis in forensic science, required high molecular weight DNA in the sample in order to get reliable data. It wasn't until modern day PCR techniques were invented that analysis of degraded DNA samples were able to be carried out Polymerase chain reaction. Multiplex PCR in particular made it possible to isolate and amplify the small fragments of DNA still left in degraded samples. Though STR loci are amplified with greater probability of success with degraded DNA, there is still the possibility that larger STR loci will fail to amplify, and therefore, would likely yield a partial profile, which results in reduced statistical weight of association in the event of a match.
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MiniSTR Analysis[ edit ] In instances where DNA samples are degraded, like in the case of intense fires or if all that remains are bone fragments, standard STR testing on these samples can be inadequate. While partial DNA profiles can be a powerful tool, the random match probabilities will be larger than if a full profile was obtained. In this new approach, primers are specially designed to bind closer to the STR region.
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The success that smaller PCR products produce a higher success rate with highly degraded samples was first reported in , when miniSTR technology was used to identify victims of the Waco fire. DNA Mixtures[ edit ] Mixtures are another common issue that forensic scientists face when they are analyzing unknown or questionable DNA samples.
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A mixture is defined as a DNA sample that contains two or more individual contributors. The presence of more than one individual in a DNA sample can make it challenging to detect individual profiles, and interpretation of mixtures should only be done by highly trained individuals. Mixtures that contain two or three individuals can be interpreted, though it will be difficult. Mixtures that contain four or more individuals are much too convoluted to get individual profiles.
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One common scenario in which a mixture is often obtained is in the case of sexual assault. A sample may be collected that contains material from the victim, the victim's consensual sexual partners, and the perpetrator s. The ease in which forensic scientists have in interpenetrating DNA mixtures largely depends on the ratio of DNA present from each individual, the genotype combinations, and total amount of DNA amplified. For example, in the case where a DNA sample had two contributors, it would be easy to interpret individual profiles if the ratio of DNA contributed by one person was much higher than the second person.
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When a sample has three or more contributors, it becomes extremely difficult to determine individual profiles. Fortunately, advancements in probabilistic genotyping could make this sort of determination possible in the future. Probabilistic genotyping uses complex computer software to run through thousands of mathematical computations in order to produce statistical likelihoods of individual genotypes found in a mixture.
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Miller and John L. Dawson at the University of Cambridge from to [28] from data collected as part of Miller's PhD thesis. There are now several DNA databases in existence around the world. Some are private, but most of the largest databases are government-controlled. The size of this database, and its rate of growth, are giving concern to civil liberties groups in the UK, where police have wide-ranging powers to take samples and retain them even in the event of acquittal.
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Public discourse around the introduction of advanced forensic techniques such as genetic genealogy using public genealogy databases and DNA phenotyping approaches has been limited, disjointed, unfocused, and raises issues of privacy and consent that may warrant the establishment of additional legal protections. Patriot Act of the United States provides a means for the U. CODIS enables law enforcement officials to test DNA samples from crimes for matches within the database, providing a means of finding specific biological profiles associated with collected DNA evidence. A cold hit is of value in referring the police agency to a specific suspect but is of less evidential value than a DNA match made from outside the DNA Databank. DNA collected from a suspect not later convicted must be disposed of and not entered into the database. In , a man residing in the UK was arrested on accusation of burglary. His DNA was taken and tested, and he was later released.
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New DNA is automatically compared to the DNA found at cold cases and, in this case, this man was found to be a match to DNA found at a rape and assault case one year earlier. The government then prosecuted him for these crimes. During the trial the DNA match was requested to be removed from the evidence because it had been illegally entered into the database. The request was carried out. In , to address this problem, Congress extended a bill that helps states deal with "a backlog" of evidence. For example: Given a match that had a 1 in 5 million probability of occurring by chance, the lawyer would argue that this meant that in a country of say 60 million people there were 12 people who would also match the profile. This was then translated to a 1 in 12 chance of the suspect's being the guilty one. This argument is not sound unless the suspect was drawn at random from the population of the country. In fact, a jury should consider how likely it is that an individual matching the genetic profile would also have been a suspect in the case for other reasons.
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Therefore, the number of times a piece of evidence is sampled can diminish the DNA collection efficiency. Another spurious statistical argument is based on the false assumption that a 1 in 5 million probability of a match automatically translates into a 1 in 5 million probability of innocence and is known as the prosecutor's fallacy. When using RFLP , the theoretical risk of a coincidental match is 1 in billion ,,, , although the practical risk is actually 1 in because monozygotic twins are 0. For example, the coincidence probabilities may be calculated based on the probabilities that markers in two samples have bands in precisely the same location, but a laboratory worker may conclude that similar—but not precisely identical—band patterns result from identical genetic samples with some imperfection in the agarose gel.
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However, in this case, the laboratory worker increases the coincidence risk by expanding the criteria for declaring a match. Recent studies have quoted relatively high error rates, which may be cause for concern. Between and , arbitrary low ceilings were controversially put on match probabilities used in RFLP analysis rather than the higher theoretically computed ones. Figures of this magnitude are not considered to be statistically supportable by scientists in the UK; for unrelated individuals with full matching DNA profiles a match probability of 1 in a billion is considered statistically supportable. However, with any DNA technique, the cautious juror should not convict on genetic fingerprint evidence alone if other factors raise doubt. Contamination with other evidence secondary transfer is a key source of incorrect DNA profiles and raising doubts as to whether a sample has been adulterated is a favorite defense technique. More rarely, chimerism is one such instance where the lack of a genetic match may unfairly exclude a suspect.
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Evidence of genetic relationship[ edit ] It is possible to use DNA profiling as evidence of genetic relationship, although such evidence varies in strength from weak to positive. Testing that shows no relationship is absolutely certain. Further, while almost all individuals have a single and distinct set of genes, ultra-rare individuals, known as " chimeras ", have at least two different sets of genes.
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There have been two cases of DNA profiling that falsely suggested that a mother was unrelated to her children. Fake DNA evidence[ edit ] In one case, a criminal planted fake DNA evidence in his own body: John Schneeberger raped one of his sedated patients in and left semen on her underwear. Police drew what they believed to be Schneeberger's blood and compared its DNA against the crime scene semen DNA on three occasions, never showing a match. It turned out that he had surgically inserted a Penrose drain into his arm and filled it with foreign blood and anticoagulants. The functional analysis of genes and their coding sequences open reading frames [ORFs] typically requires that each ORF be expressed, the encoded protein purified, antibodies produced, phenotypes examined, intracellular localization determined, and interactions with other proteins sought.
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