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Genetics
Genetics

... Relate the concept of the gene to the sequences of nucleotides in DNA Sequence the steps involving protein synthesis Categorize the different kinds of mutations that can occur in DNA Compare the effects of different kinds of mutations on cells and organisms. ...
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Newborn screening programs
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... not associated with known chromosomal, biochemical or molecular defects. • For example, a search can be made for polydactyly as a diagnostic feature of a multiple abnormality syndrome, such as one of the autosomal recessive short-limb polydactyly syndromes that are associated with severe pulmonary h ...
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... When viewed under the microscope, each human cell has the same general structure, a round ball that is filled with various particles (called organelles), and a smaller ball, somewhere in the middle, called the nucleus. The nucleus houses all of the “programming code” for the organism. The code for o ...
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... There are three distinct kinds of DNA used in genetic genealogy. 1. Y-DNA is passed down only in the male line of the family, same as the last name. This test looks at the direct paternal line down through the generations of a family. This DNA test is exclusive to men only. 2. Mitochondrial DNA (mtD ...
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Please pass last week`s warm up to the aisle. HW # 63: Read and

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Genetics Vocabulary Worksheet

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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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