...Phenylketonuria in Infants Introduction Phenylketonuria (PKU) is when a person cannot properly metabolize an amino acid known as phenylalanine that is found in food. The job of this enzyme is to chemically change the amino acid into other substances. When a child with PKU eats food containing phenylalanine, it builds up in the blood and causes problems phenylalanine is found in almost every food, except pure fat and sugar. If detected early at birth it can prevent mental defects for an infant. Phenylketonuria was the leading cause on infant death after birth before the 1960’s. Normally, such a rare condition would not attract such attention, but PKU is a treatable genetic disease. In the past, it generally resulted in severe mental retardation....
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...Different types of disorders Project in Elective Definition: Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Described as an inborn error of amino acid metabolism, phenylketonuria (PKU) was the first genetic disorder found to be due to a specific enzyme deficiency, resulting in a patient's inability to metabolise a specific amino acid appropriately. Classical PKU is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Over 70 different mutations on the PAH gene found on Chromosome 12 have been found to cause the almost complete absence of PAH as seen in PKU patients. PKU patients deficient in PAH are unable to metabolise the amino acid phenylalanine leading to an accumulation of phenylalanine and it's metabolites within the body. PKU is an example of an autosomal recessive disorder. Causes Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait. Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the...
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...What did caffeine and ethanol do to the heart rate of Daphnia? Increasing the concentration of ethanol in Daphnia decreases heart rate. Increasing the concentration of caffeine in Daphnia increases heart rate. Independent vs. Dependent Variable Independent Variable: One or more factors that the scientist varies during the experiment. Dependent Variable: A feature that the scientist measures in order to determine if it changed in response to the independent variable. What solutions were used to test for the 4 types of organic molecules? Iodine- Polysaccharide Benedict’s Reagent- Sugar Biuret Test- Protein Brown Paper Test- Lipids Vegetable Oil- Solubility of Lipids What does a positive test look like? -Iodine test for polysaccharide: dark purple/black/blue -Vegetable Oil test for solubility of lipids: 1 layer -Biuret test for protein: violet color -Benedict’s Reagent for sugar: very high concentration/orange-red How do you convert Celsius to Fahrenheit and vise versa? ...
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...Eye Color Inheritance Eye color is a physical trait that is determined by the pairing of genes from both parents. Eye color is a polygenic trait, which means there are multiple genes that interact to produce the color. It was previously thought that a single gene pair following dominant and recessive inheritance patterns was responsible for eye color, but it is now known to be much more complex than that, involving at least three gene pairs. Geneticists have focused on two of the three gene pairs to help clarify the inheritance of eye color: EYCL1, called the gey gene, and EYCL3, called the bey2 gene. There are several genes which influence the color of a person's eyes. As a general rule brown eyed genes are often dominant and blue eyed genes tend to be recessive. These factors of genetic dominance are added to the complex genetic equation that our bodies use to determine our eye color. A green allele is dominant over a blue allele, and a brown allele is dominant over both green and blue alleles. For the bey 2 gene if a person has a brown allele then they will have brown eyes. In the gey gene the green allele is dominant over the blue allele, but it is still recessive next to a brown allele. All four alleles must be blue to produce a blue eyed person. Another way of predicting the color of a child's eyes is to use the parent's eye color genes. In my family, my mother as well as my father has blue eyes. I am a one of three children they had. To be more exact, I am a triplet...
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...Seckel syndrome is a rare type of dwarfism that is caused by a congenital defect. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Serious mental retardation and blood disorders are also present in the majority of Seckel syndrome patients. Helmut Paul George Seckel was a prominent German physician who immigrated to the United States during World War II. In 1960, Seckel was the first physician to describe this disorder. It is also sometimes referred to as microcephalic primordial dwarfism, bird-headed dwarfism, and Virchow-Seckel dwarfism. A variant to this type of dwarfism is also known as Harper's syndrome, which was named after Dr. Rita G. Harper. Seckel syndrome is very rare, and only a handful of infants are diagnosed with it. It is believed to be a genetic disorder. Individuals born with this disorder typically have mutated chromosomes.These mutations can cause several physical mutations. An infant with Seckel syndrome will usually be born with a very low birth weight, due to improper growth prior to birth. Most of these infants will usually only...
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...Sickle Cell 1. Sickle Cell disease are genetic disorders resulting from the presence of a mutated of a form of hemoglobin, and found in commonly in North America is homozygous disease, an autosomal recessive disorder first described by Herrick in 1910 and causes significant morbidity and mortality, particularly in African people and Mediterranean ancestry. 2. Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crises frequency. And occur in children that are carriers inherit the sickle cell disease from both parents. 3. Because the genetic disorder is completely recessive, a person with only one SCS alleles and on unaffected allele will have a mixed phenotype and won’t suffer the experience the ill effects of the disease and yet still poses a sickle cell trait. If two carriers will have 25% chance of disease and 50% a child will be a carrier. 4. It will be caused by the presence of two incompletely recessive red blood cells are exposed to low-oxygen conditions, cells lose their healthy round shape and become sickle cell shaped. 5. Everyone is carriers of genes that are responsible for creating hemoglobin. 6. I would just be honest with the couple and make them understand all about...
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...Centre Number Surname Other Names Candidate Signature Candidate Number For Examiner’s Use Examiner’s Initials Question Mark General Certificate of Secondary Education Higher Tier June 2014 1 2 3 Additional Science Unit Biology B2 BL2HP 4 5 Biology Unit Biology B2 Tuesday 13 May 2014 9.00 am to 10.00 am H 6 7 TOTAL For this paper you must have: a ruler. You may use a calculator. A Time allowed 1 hour Instructions Use black ink or black ball-point pen. Fill in the boxes at the top of this page. Answer all questions. You must answer the questions in the spaces provided. Do not write outside the box around each page or on blank pages. Do all rough work in this book. Cross through any work you do not want to be marked. Information The marks for questions are shown in brackets. The maximum mark for this paper is 60. You are expected to use a calculator where appropriate. You are reminded of the need for good English and clear presentation in your answers. Question 2 should be answered in continuous prose. In this question you will be marked on your ability to: – use good English – organise information clearly – use specialist vocabulary where appropriate. Advice In all calculations, show clearly how you work out your answer. (Jun14BL2HP01) G/KL/103779/Jun14/E4 BL2HP 2 Answer all questions in the spaces provided. Do not write outside the box 1 Some students investigated the effect of pH on the digestion of boiled egg white by an enzyme...
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...Galactosemia A genetic disorder is a sickness when your genes or chromosomes have abnormalities. There are many different types of genetic disorders from Breast Cancer to Turner Syndrome. The genetic disorder I'm doing is Galactosemia, Galactosemia is an inherited metabolic disorder in which galactose builds up in the blood because of deficiency of an enzyme catalyzing its conversion to glucose. Galactosemia is caused by the lack of a liver enzyme that is needed to metabolize Galactose. It's transmitted by the presence of 2 recessive mutant genes on a autosome. It's also a very rare disease. Galactosemia usually occurs in infants. Some of the symptoms are, vomiting, yellowish color in the skin, when the baby refuses to drink milk/ formula's, poor weight gain, laziness, irribality, and convulsions. Galactosemia is very rare, but it is very serious when a child gets it. If it isn't treated it can result in mental retardation, permanent growth issues, coil infections, severe e, or more. Galactosemia is inherited when both parents of a child, who both carry a autosomal recessive condition. Also they both have to carry a mutated gene, they usually don't show any signs or symptoms of Galactosemia. Galactosemia is very rare, it has 1 in every 300,000 people have it in the USA. Galactosemia was discovered in 1908 by Von Ruess. It was reported when a infant was breast-fed and the infant failed to thrive. The only way they could treat it was to remove milk products from the diet. Gatactosemia...
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...A genetic disorder is a sickness when your genes or chromosomes have abnormalities. There are many different types of genetic disorders from Breast Cancer to Turner Syndrome. The genetic disorder I'm doing is Galactosemia, Galactosemia is an inherited metabolic disorder in which galactose builds up in the blood because of deficiency of an enzyme catalyzing its conversion to glucose. Galactosemia is caused by the lack of a liver enzyme that is needed to metabolize Galactose. It's transmitted by the presence of 2 recessive mutant genes on a autosome. It's also a very rare disease. Galactosemia usually occurs in infants. Some of the symptoms are, vomiting, yellowish color in the skin, when the baby refuses to drink milk/ formula's, poor weight gain, laziness, irribality, and convulsions. Galactosemia is very rare, but it is very serious when a child gets it. If it isn't treated it can result in mental retardation, permanent growth issues, coil infections, severe e, or more. Galactosemia is inherited when both parents of a child, who both carry a autosomal recessive condition. Also they both have to carry a mutated gene, they usually don't show any signs or symptoms of Galactosemia. Galactosemia is very rare, it has 1 in every 300,000 people have it in the USA. Galactosemia was discovered in 1908 by Von Ruess. It was reported when a infant was breast-fed and the infant failed to thrive. The only way they could treat it was to remove milk products from the diet. Gatactosemia was...
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...Suemin Chi November 30th, 2013 The Genetics Disease: Galactosemia There are many genetic diseases out there today, but one that caught my attention was Galactosemia. Galactosemia is a genetic disorder that affects how the body processes the simple sugar, galactose. There are three types of Galactosemia; Classic Galactosemia, Galactosemia Type II, and Galactosemia Type III. All three types are inherited in an autosomal recessive pattern but the most common is the classic Galactosemia. According to the Genetics Home Reference, it states, “Classic Galactosemia occurs in 1 in 30,000 to 60,000 newborns, Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.” This disorder is rare but if affected with it, can show symptoms that range from mild to very severe if not controlled. Those who are affected with classic galactosemia lack the enzyme Galactose 1-phosphate; (GALT), galactosemia type II has a mutation in the GALKI gene and in type III, the GALE gene. Galactose is one of the products formed from lactose when absorbed into the body. In an unaffected person, GALT will bind to galactose, which later converts to glucose and then used for energy. In an affected person, there is no GALT, so the build up of galactose will cause toxic affects on the organs. This is a very dangerous disorder one can have, but it is especially dangerous to newborns because they will not be able to drink any...
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...Imagine you are a genetic counselor. You counsel couples both before and after pregnancy on fertility, genetic disorders, and pregnancy issues. Several couples you counseled are discussed below. What may they learn by going to you, a genetic counselor? 1. The Millers have one brown-eyed female child and one male blue-eyed child. They are twins. How is this possible? Explain how that is possible by reviewing the phenotype and genotype of each child. There are two different types of twins: monozygotic twins (identical) and dizygotic twins (not identical). In this case, the twins are dizygotic because they do not share the same characteristics or gender, so each twin has his/her own set of genes from the parents. It is likely that one of the parents was heterozygous and the other parent was either homozygous recessive or heterozygous for the gene. Heterozygous means that the parent carries both a dominant and a recessive gene, but only the dominant gene is expressed. The other parent could have been homozygous recessive for the gene. Since brown is the dominant trait, the child who had the brown eyes inherited the dominant trait from one of the parents. It is likely that both of the parents carried the recessive trait for blue eyes, so it is possible for there to be one brown-eyed child and one blue-eyed child. 2. You explain several possible genetic disorders to a couple. Explain how sickle-cell anemia, Down syndrome, and/or hemophilia are genetically transmitted. Sickle...
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...move to opposite cell poles. The final step of Meiosis is Telophase II. The cells divide and four haploids each with 23 chromosomes form. Mendel’s Law of Segregation states that everyone contains a pair of alleles which separate during cell division. The Law of Independent Assortment states that different kinds of genes for separate traits are passed from parents to offspring independently. The genetic disorder that I researched was Phenylketonuria. Phenylketonuria is an autosomal recessive metabolic disorder that affects the way a person’s body breaks down protein called phenylalanine. Phenylketonuria is caused by a mutation in chromosome 12. The gene within this chromosome codes for a protein called phenylalanine hydroxylase (PAH). PAH is an enzyme in the liver that breaks down the amino acid phenylalanine into other products. The shape of the PAH enzyme changes when the gene is mutated and then it is unable to break down phenylalanine. Phenylalanine builds up in the blood and poisons neurons in the brain. Therefore, if not treated Phenylketonuria can be destructive to the nervous system. This damage in the brain can result in intellectual disability....
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...Phenylketonuria, Tay-Sach’s, and sickle cell anemia are all genetic disorders that affect many body systems; most cannot be cured. These genetic disorders can cause severe health problems that make it difficult to live a normal life. Health professionals can help treat or manage some of the symptoms to make them less severe. These disorders are caused by cell mutations and they cause severe damage to people’s body systems. Phenylketonuria is an inherited genetic disease caused by a mutation in the PAH gene. PKU causes increased levels of phenylalanine in the blood. Phenylalanine, obtained through diet, is a building block of amino acids. Left untreated, the levels of phenylalanine can build up and cause mild to severe health problems. Classic PKU is the name of the most severe form of the disease. Infants begin to show symptoms of classic PKU when they are a few months old. Children with classic PKU will develop permanent intellectual disabilities if left untreated. The most common symptoms are seizures, behavioral issues and developmental delay. Affected individuals might have a musty or mouse-like odor, lighter hair and skin than family members, and eczema. Although there is no cure for PKU, there are...
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...a severe autosomal recessive metabolic genetic disorder that will cause extreme brain damage if not found early on. If found early, PKU’s damage can be limited greatly. The newborn screening panel is used to find PKU. 4. What is PKU? PKU is an autosomal recessive metabolic genetic disorder. It is characterized by a mutation in the gene for the hepatic enzyme PAH or phenylalanine hydroxylase rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. (Phenylketonuria, 2015) 5. How is PKU screened for? PKU is screened for in the newborn screening panel. Countries that do not test for PKU in the newborn screening panel commonly screen for this issue soon after birth. If the screening shows an abnormal range for phenylalanine then the doctor will have you conduct follow up testing to include another blood sample and a urinalysis to see if there are additional amino acids present. (Phenylketonuria, 2015) 6. If Emma has PKU, what is the treatment? The treatment for PKU is a very strict diet plan to reduce the chances of Emma eating foods with Phe. If detected early enough, a person with PKU can grow up with normal, healthy lives. (Babysfirsttest, 2015). When a person does not properly maintain proper Phe levels, Phe at high levels will become toxic to the brain and cause severe trauma. Case #2: Stacey fell down and hurt her knee two days ago. Today she is at the orthopedic surgeon’s office with her knee tender...
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...nature of this variation. The process of screening genes for mutations became widely used in prenatal testing. In the past, most mutational diseases that were tested for were rare, but now studies are being conducted to detect mutations such as cancer. In 1930, the process of mutational screening for errors in DNA began when newborns were tested for phenylketonuria, which causes a buildup of in amino acid buildup in the blood that causes mental retardation. Blood was taken from the child's foot. If PKU was discovered, it could be prevented with a specific diet....
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