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Genetics 3 – Aneuploidies and Other Chromosome
Genetics 3 – Aneuploidies and Other Chromosome

... their long arms fuse. (1:1000 incidence) 2/3 de novo translocation in child – i.e. random mutation in the children 1/3 of parents are carriers of translocation – i.e. mutations in the somatic cells (gametes) of the parents. If this is the case, the parents have a high risk of further Down’s babies. ...
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... the definitive identification of an expanded allele, although the exact number of repeats cannot be reported for those alleles that have greater than 150 repeats in DMPK. Southern blot analysis is required to determine the number of repeats in alleles larger than this and is not completed as part of ...
General OTIS presentation 2
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... • Category B: Animal Studies show no risk but no controlled studies in pregnant women or Animal studies show a risk not confirmed in human studies. • Category C: Animal studies show a risk but no human studies available or No animal or human studies available. Drug should be used only if benefit jus ...
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... Mutations can arise as a consequence of misincorporation during replication ...
Assignment 4: The mutation
Assignment 4: The mutation

... The scientists located a normal allele of the candidate gene in the database. The DNA sequence of the normal allele is known. What do you think the next step should be? What question will the researchers ask? At this stage, the scientists must find the difference between the allele that is considere ...
Describe the central dogma of molecular biology.
Describe the central dogma of molecular biology.

... RNA, to proteins.  Basically, genes control the traits of organisms by controlling which proteins are made.  Although there are exceptions, in general, each gene codes for the production of one polypeptide. ...
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Simple Mendelian Inheritance of Human Trait

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Chapter 12 Review - Baldwinsville Central School District
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Biology 50 - BrainMass

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Reading Packet 5- Molecular Genetics Part 1 Chapter 16

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... snippet belongs to part A or B of the genome. However, whether A originates from the father or mother can be established only through further comparison with at least one parent. In this way, it was possible to resolve the two versions of almost all of the German subject’s 17,861 genes that code for ...
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KS4 Chromosomes, Genes and DNA

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... stakeholder would revert to for a recalculation. If genomic, cDNA, Amino Acid and Allele/Common name are reported from the laboratory, uses should not use one of these elements to recalculate another, because the laboratory likely detected the mutation at one level (genomic) and made decisions at an ...
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Brock Genetic Exchange in Bacteria

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Down syndrome
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Cell-free fetal DNA

Cell-free fetal DNA (cffDNA) is fetal DNA circulating freely in the maternal blood stream. It can be sampled by venipuncture on the mother. Analysis of cffDNA provides a method of non-invasive prenatal diagnosis.cffDNA originates from the trophoblasts making up the placenta. It is estimated that 2-6% of the DNA in the maternal blood is fetal in origin. The fetal DNA is fragmented and makes its way into the maternal bloodstream via shedding of the placental microparticles into the maternal bloodstream (figure 1). Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses. cffDNA diminishes quickly after the birth of the baby, so that it is no longer detectable in the maternal blood approximately 2 hours after birth. cffDNA is significantly smaller than the maternal DNA in the bloodstream, with fragments approximately 200bp in size. Many protocols to extract the fetal DNA from the maternal plasma use its size to distinguish it from the maternal DNA.Studies have looked at, and some even optimized, protocols for testing non-compatible RhD factors, sex determination for X-linked genetic disorders and testing for single gene disorders. Current studies are now looking at determining aneuploidies in the developing fetus. These protocols can be done earlier than the current prenatal testing methods, and have no risk of spontaneous abortion, unlike current prenatal testing methods. Non-invasive prenatal diagnosis (NIPD) has been implemented in the UK and parts of the US; it has clear benefits above the standard tests of chorionic villi sample (CVS) and amniocentesis which have procedure-related miscarriage risks of about 1 in 100 pregnancies and 1 in 200 pregnancies, respectively.As a method of prenatal diagnosis, cell-free fetal DNA techniques share the same ethical and practical issues, such as the possibility of prenatal sex discernment and sex selection.
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