DNA Flashcards Quiz

Is a mutation process which occurs during DNA replication. It involves denaturation and displacement of the DNA strands, resulting in mispairing of the complementary bases. Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences.^[1] Slipped strand mispairing has also been shown to function as a phase variation mechanism in certain bacteria.SSM events can result in either insertions or deletions. Insertions are thought to be self-accelerating: as repeats grow longer, the probability of subsequent mispairing events increases. Insertions can expand simple tandem repeats by one or more units. In long repeats, expansions may involve two or more units. For example, insertion of a single repeat unit in GAGAGA expands the sequence to GAGAGAGA, while insertion of two repeat units in [GA]₆ would produce [GA]₈. Genomic regions with a high proportion of repeated DNA sequences (tandem repeats, microsatellites) are prone to strand slippage during DNA replication.

Pelger-Huët anomaly (PHA) is a benign dominantly inherited defect of terminal neutrophil differentiation secondary to mutations in the lamin B receptor (LBR) gene. ^[1] The characteristic neutrophil appearance was first reported in 1928 by Pelger, a Dutch hematologist, who described neutrophils with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin. In 1931 Huet, a Dutch pediatrician, identified it as an inherited disorder. ^[2]Distinguishing this benign autosomal dominant disorder from acquired or pseudo–Pelger-Huët anomaly, which can be observed in individuals with myeloid leukemia, myelodysplasia, and bi-lineage acute lymphocytic leukemia, is important.LBR abnormalities do not affect neutrophil function, and Pelger-Huët cells survive normally in circulation and can phagocytize and kill microorganisms.Heterozygotes are healthy with no excessive predisposition to infection. In homozygous individuals, Pelger-Huët anomaly (PHA) may be associated with skeletal anomalies

*Answer is GAIN OF FUNCTION in receptor for PTH.(Now you could have answered the question without knowing the disease as you know that it would produce findings similar to HYPERparathyroidism, so Gain of function in receptor would be best choice), also you could have ruled out other options(Haploinsufficiency-Loss of function),Dominant negative effect(Would have opposite effect to what would be normally expected-so here it would be something like:PTH receptor activation >hypocalcemia).

*They kill P.Falciparum by inhibiting Endoplasmic Reticulum ATPase.*can be only effective drugs in some parts of Africa.

Since tests for exocrine pancreatic function in children with Cystic Fibrosis have been difficult and unreliable, fecal elastase (EL1) (employing a monoclonal antibody) is reliable, non-invasive, highly specific, sensitive, easily reproducible and valid to assist without interruption of exogenous pancreatic enzyme therapy for pancreatic function in children and infants.

Afibrinoginemia

Gallamine triethiodide (Flaxedil) is a non-depolarising muscle relaxant.[1] It acts by combining with the cholinergic receptor sites in muscle and competitively blocking the transmitter action of acetylcholine.[2] Gallamine triethiodide has a parasympatholytic effect on the cardiac vagus nerve which causes tachycardia[3][4] and occasionally hypertension. Very high doses cause histamine release. Gallamine triethiodide is commonly used to stabilize muscle contractions during surgical procedures

Malakoplakia or malacoplakia (from Greek Malako "soft" + Plako "plaque") is a rare inflammatory condition which makes its presence known as a papule, plaque or ulceration that usually affects the genitourinary tract.^[1]:274 However, it may also be associated with other bodily organs. It was initially described in the early 20th century as soft yellowish plaques found on the mucosa of the urinary bladder. Microscopically it is characterized by the presence of foamy histiocytes with basophilic inclusions called Michaelis–Gutmann bodies.It usually involves gram negative bacteria

There is ample evidence from functional imaging studies that perception of another person's feelings, at least negative emotions and pain, engage anterior insula and anterior cingulate cortex

There are at least three classes of integrons based upon which integrase gene they contain. The antibiotic resistance genes that integrons capture are located on gene cassettes. These cassettes can exist as free circular DNA. A recombination event occurs, integrating the cassette into the integron.

*Stomelysin is METALOPROTEINASE-Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix proteins and during tissue remodeling in normal physiological processes, such as embryonic development and reproduction, as well as in disease processes, such as arthritis, and tumour metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases.vsGlycosylation-dependent cell adhesion molecule-1 (GLYCAM1) is a proteoglycan ligand expressed on cells of the high endothelial venules in lymph nodes. It is able to bind to the receptor L-selectin during inflammation, acting as a homing beacon for leukocytes expressing the receptor to enter the site of inflammation.^[1] GLYCAM1 binds to L-selectin by presenting one or more O-linked carbohydrates to the lectin domain of the leukocyte cell surface selectin.^{[citation needed]} Data suggests that GLYCAM1 is a hormone-regulated milk protein that is part of the milk mucin complex

Central core disease (CCD), also known as central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.

Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.. Diseases in the nemaline myopathy group come about from the presence of rod-like structures running perpendicular to the sarcomeres in skeletal muscle fibers. The presence of these rods in muscle cells makes it more difficult for the muscles to contract. Normally, muscle cells contract by different fibers sliding past one another. All of the different gene mutations leading to NM that have been found so far are in genes that encode different components of the sarcomer

Brain deathnoun

1. irreversible brain damage causing the end of independent respiration, regarded as indicative of death.basiaclly can't breathe on htheir own

Restless legs syndrome