Pathophysiology

Resource 1 : Week 1 Homework ?Complete the following homework problems ?All answers must be coherent and in your own words ?If you use acronyms , be sure that they are commonly accepted medical abbreviations and not specific to a given clinical site HYPERLINK "http /www .medindia .net /acronym /index .asp http /www .medindia .net /acronym /index .asp ?If you present unique information that was acquired through external sources (outside the text or lecture materials , appropriately cite the reference in APA style ?Refer to Resource 11 : Homework Grading Rubric in the Course Resource Folder for the

grading criteria for this assignment 1 ) Select one genetic dis from each category and complete the three tables below

Category 1 Category 2 Category 3

Achondroplasia Cystic Fibrosis Chronic Granulomatous Disease

Huntington 's Disease Gaucher disease Color blindness

Marfan Syndrome Sickle-cell anemia Duchenne 's Muscular Dystrophy

Neurofibromatosis type 1 Tay-Sachs disease Severe Combined Immune Deficiency

Otosclerosis Phenylketonuria Hemophilia A Name of category 1 dis selected

MARFAN SYNDROME

Identify the mode of inheritance for the dis

Marfan syndrome , a single gene dis , is inherited through AUTOSOMAL DOMINANT INHERITANCE

Predict the probability of having children with the dis , having children that are carriers (if possible , and having children that neither have the disease nor are carriers for each of these possible mating combinations

1 ) Both parents are heterozygous for the dis

Out of 4 children , 1 is homozygous and is affected by Marfan syndrome , 2 are heterozygous who can also manifest the phenotype of the disease , and the...