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.…
July 28, 2016 an incredible miracle was welcomed into this world. Isaiah Thomas McClain, weighed 6 pounds and 14 ounces, a handsome little boy that is so special and loved very much. About seven months ago, my lovely sister Ashely has been in a tremendous amount of doctor appointments to receive help. Every one of the doctors had told her to abort him; they told her that aborting him would be the best choice, due to they believed he has an extra chromosome 13, which is called Trisomy 13; the life span is two minutes after birth up to two years. Isaiah's organs would be in the wrong place, he would have major heart problems, his brain would not have any protection, he will not have a left eye, and he will have a cleft lip.…
It is seen in all ages, races and socioeconomic levels, but a higher incidence is found with a maternal age older than 35 years. This is associated with the fact that 90% of cases with an extra chromosome 21 originates from the mother. Trisomy 21 is associated with intellectual disability, characteristic facial features, such as slanted eyes and depressed nasal bridge and other health problems, including cardiac defects, intestinal malformations, and etc.…
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…
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…
This condition is more likely to develop in a child who: Is born prematurely. Is born at a very low birth weight.…
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…
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…
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.…
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”).…
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.…
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,…
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.…
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…
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.…