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Maple Syrup Urine Disease (MSUD) Types

The characteristic smell of maple syrup in urine of affected patients gave the disease its name following its discovery in the early 1954 by J.H. Menkes and his colleagues. A group of researchers led by Dancis in 1960, discovered that the metabolic block in MSUD is caused by an insufficient supply of a digestive enzyme that catalyses the breakdown of three branched-chain amino acids, leucine, isoleucine and valine. The deficient enzyme was defined in 1978, and is now known as branched-chain alpha-keto acid dehydrogenase complex (BCKD) (Podebrad, F. et al., 1999).
In affected patients, the three branched-chain amino acids and their by-products known as ketoacids build up in the urine, blood and other body tissues. Normally, a baby born with MSUD undergo severe acidosis, where it abnormally develops high levels of acid in the blood, during the first weeks of life, followed by seizures and coma due to the swelling of brain tissue, and ultimately leads to death (Scriver, C.R.

Sordaria Fimicola Crossing Over Lab

ABSTRACT: The objective of this lab was to study and test the sordaria fimicola fungus crossover by determining what color it will yield during meiosis; a cross over that will be between the wild type and the mutant alleles. My hypothesis for this experiment is that all the mutant allele will appear in the final results because at the final phase if meiosis, the mutant allele is the one raised. The experiment was started by receiving a Petri dish containing a mycelia mass of hyphae, wild-type black and tan cultures, cut into small squares. Two squares from each mass were removed using the aseptic method; which involved dipping a metal rod in ethanol and then into the flames to sterilize it, And then placed into a sterile Petri dish which we labeled our bench letter “c.” the sqares where flipped onto the surface of the matching crossing agar and then put away in a 22-24 degree environment to incubate for approximately seven days, after which the Sordaria Fumicola where mature and also hybrids had developed. The spores were carefully removed from the petri dish and onto a slide with a drop of water, a cover slip was put on it, and then it was examined under the microscope at the 10X magnification for observation. Twenty -five asci were observed for the meiosis I and meiosis II, and out of the twenty-five, eleven had undergone the meiosis I pattern and fourteen showed the meiosis II pattern. Within that Fourteen that underwent meiosis II, there were nine that were in the two plus two plus two plus two crossover arrangement, while the other five were in the two plus four plus two arrangement. With the result that we got, we were able to conclude that the percentage of asci that actually crossed over was Fifty -six percent.
INTRODUCTION: Sordariaceae is the family of fungus the ascomycete fungus Sordaria fimicola falls under, they are mainly used for gene mapping and crossing over during the meiosis cycle (Ellis