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POLYMERASE-CHAIN-REACTION (PCR) ANALYSIS OF
POLYMERASE-CHAIN-REACTION (PCR) ANALYSIS OF

... a situationsupportedby the factthat extrabands homozygousoffspring,the allele was found in occur with multiples of the length of the repeat both parents (Fig. 2). Data were consistentwith unit. The possibilitythat the extrabandswould every parent transmitting one allele to eachoffreflecta genetichet ...
Ph.D. Human Genetics - Central University of Punjab
Ph.D. Human Genetics - Central University of Punjab

... vectors; Isolation of specific nucleic acid sequences, Generation of genomic and cDNA libraries in plasmid, phage, cosmid, BAC and YAC vectors; In vitro mutagenesis and deletin techniques, gene knock out in bacterial and eukaryotic organisms; protein sequencing methods, detection of post translation ...
DNA, RNA, and the Flow of Genetic Information
DNA, RNA, and the Flow of Genetic Information

... currency and as molecular signals. Consequently, it is important to be familiar with the nomenclature of nucleotides and their precursors. A unit consisting of a base bonded to a sugar is referred to as a nucleoside. The four nucleoside units in RNA are called adenosine, guanosine, cytidine, and uri ...
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... Triple X syndrome, or trisomy X, occurs when a female has an extra X chromosome in each of her cells. This results when the mother's reproductive cells divide improperly, and two X chromosome are moved into one gamete. When that gamete is fertilized and the father's DNA and X chromosome are combine ...
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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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