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Genetic Variation
Genetic variation refers to the variation in the genome sequences between individual organisms of a species. Individual differences or population differences can both be referred to as genetic variations. It is primarily caused by mutation, but other factors such as genetic drift and sexual reproduction also play a major role.
Quantitative Genetics
Quantitative genetics is the part of genetics that deals with the continuous trait, where the expression of various genes influences the phenotypes. Thus genes are expressed together to produce a trait with continuous variability. This is unlike the classical traits or qualitative traits, where each trait is controlled by the expression of a single or very few genes to produce a discontinuous variation.
Neo-
Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Mary is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Paul whose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibits sickle cell anemia.
- What are the genotypes of Mary and Paul?
- If they plan to have four children, what is the probability that:
- all their children will be normal? ____________
- they will have a son with Huntington’s disease? ___________
- they will have a daughter inflicted with both conditions?____________
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- Mendelian Genetics and Non-Mendelian Genetics: Huntington’s disease, a neurodegenerative genetic disorder that typically becomes noticeable in middle age, is due to an autosomal dominant allele. Sickle cell anemia, on the other hand, is a genetic blood disorder due to a recessive allele. Jillian is a carrier of the allele for sickle cell anemia but has no sign of any neurodegenerative disorder in her family. She married Jacobwhose father died of Huntington’s disease. His mother, however, is not inflicted with that condition. Neither of his parents exhibit sickle cell anemia. 1. Give the genotypes of Jillian and Jacob. Assuming that they will have 4 children, what is the probability that: 2. all their children will be normal? 3. they will have a son with Huntington’s disease? 4. they will have a daughter inflicted with both conditionsautosomal recessive allele (not sex-linked). Omplete the following monohybrid crosses for different types neritance pattefh autosomal dominant, sex linked recessive, and dominant inheritance. Inheritance of autosomal recessive traits Female parent phenolype: Example: Albinism Albinism (lack of pigment in hair, eyes and skin) is inherited as an Male parent phenatype: Using the codes: PP Pp (normal) (albino) la) Enter the parent phenotypes and complete the Punnett square for a cross between two carrier genotypes. A Give the ratios for the phenotypes from this cross. Pp (carrier) eggs sperm Phenotype ratios: Inheritance of autosomal dominant traits Example: Woolly hair Woolly hair is inherited as an autosomal dominant allele. Each affected individual will have at least one affected parent. Using the codes: WW (woolly hair) Female parent phenotype: Male parent phenotype: Ww (woolly hair, heterozygous) W w (normal hair) (a) Enter the parent phenotypes and complete the Punnett square for a…Genetic Inheritance Patterns: Retinitis pigmentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Usher’s Syndrome is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. One website (http://www.emedicine.com/oph/topic704.htm) says that Usher’s Syndrome Type II has been mapped to chromosome arm 1qe. Usher’s Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition 1) Draw a pedigree of Eric's family showing possible genotypes and chances of having RP. Within this pedigree, include Eric's parents, Eric himself, Eric's brother Dirk, and a daughter of Eric's. Be sure to follow all standard pedigree conventions. 2) Imagine you are a genetics counselor. Based upon the pattern of inheritance, what advice would you give Eric's…
- O O c. A person who has a gene allele for a disorder with reduced penetrance (60%) that is transmittedin an autosomal dominant pattern and is usually expressed after age 30 has reached the age of 50 without any manifestations of the disorder. He now states that he wishes that he had decided to have children now that he knows he cannot pass the disorder on to any children he fathered. Is this man's thinking correct? Explain This person is not right because he can still pass the disorder to his offspring. Penetrance is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). The individual exhibits signs and symtoms of genetic disorder. He did not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. He is a carrier of the allele for this disorder. As carrier he can give the genetic information to his child who could have a complete penetrance and…dominant-therefore someone with AB genotype has AB phenotype. You can see both because they are codominant) i) What are the possible genotypes for someone with A blood type? ii) What about B blood type? iii) Let's assume that an person by the name of Dustin Beilber (this name sounds really familiar for some reason) is taken to trial in a paternity suit by a woman claiming that he is the father of her child. He claims he is not the father. At the trial, an expert witness reveals the blood types of all three: Dustin's blood type – B Mother's blood type – A Child's blood type – O Based on these data, is it possible that Dustin is the father of this child? (To put this in terms of the scientific method, you are trying to disprove the hypothesis that Dustin is the father). If you can't disprove this, it doesn't mean that he is the father, it simply means that you cannot reject the hypothesis). Explain your answer.Trait: NeurofibromatosisThe dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness. Some tumors can convert to a cancerous form.The recessive form is a normal protein - in other words, no neurofibromatosis. Situation:Karina wants to know from whom she got her disorder. Her grandmother Ana has neurofibromatosis. Ana marries Angelo, who does not have the disease. They both have children named Christine (eldest), Monica, Joseph, Marco, and Yna (youngest). Monica, Marco, and Yna have the disorder out of the five children. Christine marries a man with the disorder, and they have two daughters, Kadita and Karina, who both have the disorder, and another daughter, Karrie, who does not have neurofibromatosis. Yna, on the other hand, marries a man with the disorder. They have four children,…
- Genetic Inheritance Patterms Retinitis pigmnentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Question below - short answer approach Imagine you are a genetics counselor, and Dirk, Erik's brother, comes in to see you. Based on his parents, what are Dirk's possible genotypes for RP? What advice would you give Dirk about the chances of Dirk's children having retinitis pigmentosa if his wife is not a carrier? How would your advice change if his wife fully has the disease? Describe all the possibilities,…One of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck in small vessels, which prevent blood flow, leading to fatigue, pain and other severe complications. Sickle cell anemia is an autosomal recessive disorder. Neither of your patient's parents has sickle cell anemia. What is the most likely genotype of her parents? (The normal beta-globin allele is abbreviated as B, and the abnormal allele as b.) one is B and one is b one is BB and one is bb both are Bb both are bb both are BBBackground Information: Autosomal Dominant/Recessive- The trait is encoded by a single genetic locus with two segregating alleles: One dominant (A) and one recessive (a). The locus is not on a sex chromosome, and is not linked to any other trait unless specified.Autosomal Codominance- This mode is the same as Autosomal Dominant/Recessive, except that neither allele isdominant or recessive and heterozygous individuals have a distinct phenotype. X-linked Dominant/Recessive - The trait is encoded by a single genetic locus with two segregating alleles: One dominant (A) and one recessive (a). The locus is located on the X-chromosome, and is not linked to any other trait unless specified.X-linked Codominance- This is the same as X-linked dominant/recessive, except that heterozygous females (twocopies of the X-chromosome) experience a distinct phenotype relative to females that are homozygous for either of the two alleles. Males will be segregating with two phenotypes (because they only have…
- Considering a common autosomal recessive trait: (Read each statement carefully. Select all of the statements below that are true (that you agree with). Leave any statements that are false (that you do not agree with) un- selected.) the unaffected biological siblings of an affected person should be heterozygotes. an unaffected woman and an affected man have at most a 100% probability of having a affected child. an affected person should have an affected parent. The unaffected offspring of an affected parent must be carriers.Genetic Inheritance Patterms Retinitis pigmentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Draw a pedigree of Eric's family showing possible genotypes and chances of having RP. Your pedigree must include his parents, Eric, his brother Dirk, and a potential daughter of Eric's. Draws a pedigree that shows the correct genotypes and chances of having retinitis pigmentosa for Eric and his family. D.Focus (United States) a S W 37 F 八 口Pedigree 4: A. What mode of inheritance supports the pattern of this disease in this family? Choose from: autosomal dominant or autosomal recessive. B. State the genotypes of individuals #1 - #4 for this mode of inheritance. C. Ifindividual #3 has another child with the same partner, what is the probability that this child will have the disease? hp fg f10 トト %24 4. & 7 8 T