2) Indicate the pattern of inheritance for the human genetic disorders. Use letter symbols for your answers (AR, AD, XR,XD, M) where appropriate. Table 2. HUMAN GENETIC DISORDER PATTERN OF INHERITANCE Marfan Syndrome Sickle Cell Anemia Classical Hemophilia Hypophosphatemia Cystic Fibrosis Phenylketonuria Huntington’s Disease Tay Sachs Disease Neurofibromatosis Alkaptonuria Xeroderma pigmentosum Kearns-Sayre Syndrome Achondroplasia Beta thalassemia Duchene Muscular Dystrophy

2) Indicate the pattern of inheritance for the human genetic disorders. Use letter symbols for your answers (AR, AD, XR,XD, M) where appropriate. Table 2. HUMAN GENETIC DISORDER PATTERN OF INHERITANCE Marfan Syndrome Sickle Cell Anemia Classical Hemophilia Hypophosphatemia Cystic Fibrosis Phenylketonuria Huntington’s Disease Tay Sachs Disease Neurofibromatosis Alkaptonuria Xeroderma pigmentosum Kearns-Sayre Syndrome Achondroplasia Beta thalassemia Duchene Muscular Dystrophy

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section16.3: Genetic Diseases Caused By Single-gene Mutations

Problem 7LO: State whether each of the following genetic defects is inherited as an autosomal recessive,...

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Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?
Phenylketonuria and alkaptonuria are both autosomal recessive diseases. If a person with PKU marries a person with AKU, what will the phenotype of their children be?
Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
Phenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?
Niemann Pick Type C disease is a recessive disorder that causes the accumulation of cholesterol and other lipids in lysosomes, ultimately affecting both the liver and the nervous system. Below are the genotypes and phenotypes of offspring of a family with a history of Niemann Pick. 7 NN ( all normal phenotype) 3 Nn (all normal phenotype) 4 nn (1 early onset dementia, 1 mid-life onset dementia, 2 late-onset dementia). From this information, Niemann-Pick disease is an example of: A) variable expressivity B) incomplete dominance C) incomplete penetrance D) variable expressivity and incomplete penetrance E) multiple alleles
Sickle cell disease— what is the background of this disorder: include the name of the disorder, any alternate names used, provide a description of the disorder, and the typical age of onset. What is the Type of genetic disorder: explain if and how this disorder is inherited. Explain the genetic causes of the disorder. Is it inherited? Is the disorder a dominant or recessive trait? Which chromosome is affected in this disorder? Is a gene mutated? If so, name the gene that is affected? How is gene expression impacted (is it a particular type of mutation, a case of a misshapen protein, etc.?)
Please find an Image/Graphic to represent sickle cell disease: Use at least two different images to help the audience understand the cause and/or inheritance pattern of the disorder you chose. Include a brief 1-2 sentence caption below each image that gives a description of the image and explains its relevance to your chosen disorder. The two images should NOT convey the same exact information. Ideas of images to use include: karyotypes, pedigrees, DNA sequences, etc. Please note: the images should be specific to your chosen disorder. The 2 required images must be related to cause and/or inheritance pattern. Images of an individual with the disorder will not count toward your 2 required images as they do not contribute to the audience's understanding of cause and/or inheritance pattern.
Select two of the following diseases and discuss cause, predisposing factors and identify if it is considered a Genetic Disease or a Congenital defect: 1) Phenylketonuria 2) Cystic fibrosis
As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?
A couple is planning a family, but since each has a brother having the sickle-cell disorder, they are worried that their kids might develop the disorder too. Neither of them nor their respective parents have the disorder. Which of the following will be your smartest advice as a genetic counsellor? One of four of their children can be expected to have sickle cell. It is possible that none of their kids will have the disorder, but tests should be carried out on both of them to confirm. All of their children will have sickle-cell disorder. There is no chance of any of their kids having sickle cell.
Alpha thalassemia is a hereditary blood condition that results in varying levels of anemia. It is tied to the HB alpha 1 gene and the HB alpha 2 gene on human chromosome 16. The diagram shows the proteins for the hemoglobin genes and the pedigree shows genotypes, designated by the letter X, on the chromosomes for a family affected by the condition. Which represents the predicted level of anemia in a child born to the mother and father in the image with a mutation that results in a genotype of xxxx? Why? A - mild anemia because the loss of 4 genes would equal the loss of the 4 proteins needed for normal alpha hemoglobin B - severe anemia because the loss of 4 genes would equal the loss of the 4 proteins needed for normal alpha hemoglobin C - mild anemia because the addition of 4 genes would produce too many of the proteins needed for normal alpha hemoglobin D - severe anemia because the addition of 4 genes would produce too many of the proteins needed for normal alpha hemoglobin

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HUMAN GENETIC DISORDER	PATTERN OF INHERITANCE
Marfan Syndrome
Sickle Cell Anemia
Classical Hemophilia
Hypophosphatemia
Cystic Fibrosis
Phenylketonuria
Huntington’s Disease
Tay Sachs Disease
Neurofibromatosis
Alkaptonuria
Xeroderma pigmentosum
Kearns-Sayre Syndrome
Achondroplasia
Beta thalassemia
Duchene Muscular Dystrophy