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Agarose Gel Electrophoresis
Agarose Gel Electrophoresis

... The intercalating dye, ethidium bromide, is commonly incorporated into the gel and running buffer. The dye reduces the mobility of linear duplexes (Fig. 10.4.2D) and has a particularly pronounced effect on the mobility of closed circular DNA. Ethidium bromide changes the superhelical density of clos ...
GCE Biology Unit 2 - The variety of living organisms Mark Scheme
GCE Biology Unit 2 - The variety of living organisms Mark Scheme

... Mark schemes are prepared by the Principal Examiner and considered, together with the relevant questions, by a panel of subject teachers. This mark scheme includes any amendments made at the standardisation meeting attended by all examiners and is the scheme which was used by them in this examinati ...
slides
slides

A simple set of rules for primer sequence design is as follows
A simple set of rules for primer sequence design is as follows

... primers. Finally, there are instructions on how to perform a nucleotide BLAST to check the specificity of each primer. Read through the information and then use these instructions to complete the Primer Design Exercise. Primer Length The optimum length of a primer depends upon its (A+T) content, and ...
Test Info Sheet
Test Info Sheet

... A common mutation in the HADHA gene (c.1528 G->C) in exon 15, accounts for approximately 87% of alleles in isolated LCHAD deficiency. 3,4 Mutations in HADHA are mostly missense, nonsense, small insertions/deletions and splice site changes. The majority of mutations identified in HADHB are missense, ...
5. Why are there several children with Down syndrome in my family?
5. Why are there several children with Down syndrome in my family?

... joined end to end with another chromosome (only chromosomes 13, 14, 15, 21 or 22 are involved in Robertsonian translocations). It is not possible to determine from physical examination if a person has trisomy 21 or a Robertsonian translocation causing Down syndrome because both result in the same cl ...
russell-silver syndrome
russell-silver syndrome

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... Ans. Infertile couples could be assisted to have children through some special methods called assisted reproductive technologies (ART). (i) In vitro fertilisation (IVF) is the method in which the mature egg is removed from a woman’s ovary, kept in laboratory culture dish and mixed with sperm from hu ...
Different physical delivery systems: An important approach for
Different physical delivery systems: An important approach for

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Gene Section XPC (xeroderma pigmentosum, complementation group C) Atlas of Genetics and Cytogenetics
Gene Section XPC (xeroderma pigmentosum, complementation group C) Atlas of Genetics and Cytogenetics

... damaged site. The XPC-HR23B complex is only required for global genome repair. In case of transcription coupled repair when an RNA polymerase is stalled at a lesion, the DNA is unwound by the transcription complex and XPA can bind independently of XPC-HR23B complex. ...
Document
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... encode the twenty standard amino acids, giving most amino acids more than one possible codon. There are also three 'stop' or 'nonsense' codons signifying the end of the coding region; these are the TAA, TGA and TAG codons. ...
Two-Exon Skipping Due to a Point Mutation in p67
Two-Exon Skipping Due to a Point Mutation in p67

... proline-rich sequence and the mutant protein may have lost its stability due to a loss of these sequences. The sequences, therefore, contributetoprotein stabilitythrough intra-or intermolecular association of p67-phox with itself or with other proteins such as p47-phox or p40-phox that contain simil ...
The genome organisation of vertebrates
The genome organisation of vertebrates

... millions of base pairs [bp]) for a typical bacterium, such as Escherichia coli, to about 3,200 Mb or 3.2 Gb (gigabases, or billions of bp) for eukaryotes such as humans. While prokaryotes (bacteria) are characterised by small genome sizes, clustering around the value given above for E.coli, eukaryot ...
The full-length HIV-1 molecular clone pLAI 61 was used to produce
The full-length HIV-1 molecular clone pLAI 61 was used to produce

... WdV049 and NotI-WdV050. The EF1α and as-tat fragments were mixed and subjected to a second PCR with primers HindIII-WdV047 and NotI-WdV050, and ligated into the HindIII and NotI sites of pWdV06.3 to yield pWdV17. The BGH-polyA was amplified by PCR on pEF5/FRT/V5-DEST with primers WdV053 and PacI-WdV ...
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HBB cDNA, homo sapiens
HBB cDNA, homo sapiens

Partial trisomy 6 - Swiss Society of Neonatology
Partial trisomy 6 - Swiss Society of Neonatology

... The spectrum of outcome of patients with a partial trisomy 6q is very broad. Most fetuses with this anomaly die early in pregnancy. The outcome of live born infants is dependent on the clinical manifestations. With special care and specific therapies, some children have managed to reach adulthood. O ...
A MULTI-STAGE MODEL FOR QUANTITATIVE PCR Emily Stone
A MULTI-STAGE MODEL FOR QUANTITATIVE PCR Emily Stone

... this stretch of DNA in the sample is doubled in each heating-cooling cycle. Instruments that perform real-time PCR usually detect the amplified DNA using fluorescent probes that are added to the PCR reagents before temperature cycling. These probes bind to the DNA and generally fluoresce more when b ...
Chapter 3
Chapter 3

... human cells Genetic codes are programmed into the new individual’s cells by DNA Single mistake or variation in sequence can effect cell(s) development Can lead to mutations/disease Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. ...
Find.
Find.

... Translate DNA into aminoacids. • Open a new browser. • Open Gene Boy http://www.dnai.org/geneboy/. • Click Your Sequence. • Paste the sequence into the workspace. • Click Save Sequence (should yield 576 nucleotides). ...
Identification of Copy Number Variants using genome graphs.
Identification of Copy Number Variants using genome graphs.

File
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... Genetic testing  Amniocentesis in 2nd trimester sample of embryo cells from fluid  stain & photograph chromosomes ...
16S rRNA characterization of Bacillus strain and its
16S rRNA characterization of Bacillus strain and its

... Fig. (6): The percentage of Bacillus ...
Chapter 21 Extranuclear genes
Chapter 21 Extranuclear genes

... Organelle mutations Map of human mtDNA showing loci of mutations leading to cytopathies. Single letter are one-letter abbreviations for amino acids. ND, NADH dehydrogenase; COX, cytochrome oxidase; 12S and 16S, ribosomal RNAs ...
Case One, Question 1 - American Academy of Dermatology
Case One, Question 1 - American Academy of Dermatology

... Goals and Objectives  The purpose of this module is to help medical students develop a clinical approach to the evaluation and initial management of patients presenting with specific dermatoses of pregnancy.  By completing this module, the learner will be able to: • Identify and describe the morp ...
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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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