Question

individuals with marfan syndrome have a mutates gene in chromosome 15 which causes many phenotpic abnormalities such as disproportionately long arms and legs, a weakened aorta, stretch marks in skin, and poor eyesight. the pattern inheritance that would best describe this genetic disorder is

Answer 1

It is inherited following an autosomal dominant inheritance; in this way, the risk that the child of an affected father or affected mother will have the disease is 50%.

Step-by-step explanation:

Marfan syndrome is a systemic connective tissue disorder, autosomal dominant, which means that statistically the probability that a patient's children are affected by the disease is approximately 50%, it is caused by mutations in the protein of the extracellular matrix fibrillin 1. This disease mainly affects the cardiovascular, ocular and skeletal systems. The elastic fiber has the function of distension and retraction, it is part of the extracellular matrix of the tissues and is composed of elastin and a network of microfibrils that serves as a framework for the elastin deposit and the assembly of the elastic fibers. This network of microfibrils is formed by fibrillin1, which is encoded by the FBN1 gene on chromosome 15q21, the defect of which is expressed through a dominant negative effect, that is, in heterozygotes, the mutant fibrillin1 destroys the assembly of normal microfibrils, possibly , by acting with the products of the normal allele.