Question 1: a) A: Promoter B: Splice site C: 5’ UTR D: Start codon E: Stop codon F: 3’ UTR b) The sum of the exons and introns (all in kilobases) (1.2+8+0.7+27+0.4+11+3.1) = 51.4 kb. c) The sum of the exons (all in kilobases) (1.2+0.7+0.4+3.1) = 5.4 kb.…
Lebo et al. (2000) stated that “Both purported parents were tested, and neither carries the gene deletion. Polymorphic simple-sequence repeat analyses at 15 loci on chromosome 1 and at 16 loci on other chromosomes confirmed parentage and revealed that a de novo mutation prior to maternal meiosis I, followed by nondisjunction in maternal meiosis II, resulted in an oocyte with two copies of the de novo (an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell) mutant allele.” Therefore during the fertilization by a sperm that did not carry a paternal chromosome 1, the child inherited two mutant MSUD2 alleles on two maternal number 1 chromosomes instead. If both parents carry the MSUD gene, each of their children has a 1 in 4 chance of getting the disorder, and a 1 in 2 chance of being a…
There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…
Additional testing may be necessary to determine the direct source of the mutated gene. Determining whether the mother or the father is the host of the mutated genome source can prove to be rather critical to further determine the severity of the child’s…
This condition is more likely to develop in a child who: Is born prematurely. Is born at a very low birth weight.…
For this reason the diagnosis can not be based on a simple chromosomal examination, but requires pecific tests of molecular genetics. All conditions of the syndrome associated with structural or functional abnormalities of chromosome 14 are rare. However, it is feasible that their frequenc is underestimated, particularly in relation to RING syndrome 14. In fact, in RING syndrome 14, phenotypic abnormalities are generally mild and the growth delay is not marked or absent, so the indication of the chromosomal examination Can be escaped or be requested late. Clinical and genetic characterization of all these conditions, possible only by comparative analysis of a wide variety of cases, will improve the knowledge in the same families and specialist doctors, and may also allow a more effective…
Trisomy 13 is a disorder that is created by translocation. An extra 13th chromosome somehow attached to one of the gametes. Infants die quickly with little chance at life. Genetic researchers don’t know why. Trisomy 13 is a genetic mutation linked to the 13th chromosome.…
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the…
Maple syrup urine disease is a rare disorder in which the body fails to properly process certain amino acids, such as leucine, isoleucine and valine. which are present in foods such as milk, eggs, meat. Therefore, results in a buildup of these in the blood. It is called maple syrup due to its distinctive sweet odor of affected infant’s urine. MSUD can damage the brain when in physical stress, such as fever, infection, starving.…
Oscar Smith touched the lives of everyone around him. No matter what difficult circumstances may come into his life, he always stays positive and never lets it affect the smile he has on his face. Whenever he smiles, positivity reflects onto the rest of the world. Though Oscar seemed to be joyful all the time, he was not always that way.…
This occurs when a pair of the twenty first chromosome in the egg or sperm does not properly divide, resulting in the child having three copies of chromosome 21 instead of just two. The extra copy of chromosome 21 is reproduced in every cell of the unborn child’s body. This type of Down Syndrome is more common than any other type. It is the cause behind 95% of all people with Down syndrome (“Facts about Down Syndrome”).…
Genetic counselors come from backgrounds in genetics and in counseling. They provide key information and guidance for expecting parents. A genetic counselor would be able to identify potential birth defects and genetic disorders. There are several different kinds of genetic counselors with specific areas of expertise. Depending upon the reasons a family sought out a counselor, can dictate what kind of counselor they get to work with.…
Many signs and symptoms become noticeable at birth such as; abnormal facial characteristics, growth deficits, brain damage, heart, lung, and kidney defects. Fetal Alcohol Syndrome is the most visible disorder associated with prenatal alcohol exposure. The criteria for being diagnosed are abnormal facial features, below average height and weight, and central nervous system abnormalities (NOFAS). As the child ages symptoms become more prominent and more problems occur such as,…
Background Turner’s syndrome is a genetic disorder that occurs in 1 in every 2,500 female births. Though it occurs in about 3% of fetuses, 99% of these fetuses are spontaneously aborted[1]. Turner’s syndrome can be defined as a combination of phenotypes with varying expressivity along with the complete or partial loss of an X sex chromosome[2]. Symptoms of Turner’s syndrome include, but aren’t limited to short stature, glucose intolerance, broad chest and widely spread nipples, amenorrhea, webbed neck, aortic valve stenosis, visual impairments, hearing loss, problems with concentration, and nonverbal learning issues[3]. Not all individuals will present with the same combination of symptoms or with the same expressivity[4].…
Unit 18 - Genetics (Assignment 1) Task 1. Deoxyribonucleic acid (DNA for short) is genetic material that carry’s the majority of information for development growth and many other functions. DNA is located in the nucleus of a cell. DNA has a double helix structure and is formed by a series of bases these are Adenine , Cytosine , Guanine and Thymine.…