Marfan syndrome is not very common 1 in 5,000 people suffer from it. Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Marfan syndrome affects men, women, and children. Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the symptoms progress as the person ages. People with Marfan syndrome are typically very tall, slender, and loose-jointed because Marfan syndrome affects the long bones of the skeleton, a person's arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye. The brain and spinal cord are surrounded by fluid contained by a membrane called the Dura, which is composed of connective tissue. As someone with Marfan syndrome gets older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. Many people with Marfan syndrome develop stretch marks on their skin, even without any weight change. These stretch marks can occur at any age and pose no health risk. The FBN1 gene is affected from Marfan syndrome. Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other
Questions for Paper 1:
1. What is the species that your condition affects? Introduce your species – tell me something about it such as its common name, where it lives, how it reproduces, etc.
- Species: Homo Sapiens
- Common Name: Humans
- Where it lives: Earth
- How it reproduces: SEX
2. What is your genetic condition? Introduce the name of the condition, what this means phenotypically for a patient with this condition, etc.
- Name: Marfan Syndrome
Progressive loss of vision leading to blindness, difficulty
walking, muscle weakness or rigid muscles
Result from a
in the FBN1
pattern, no needed family
background of disease.
-Vision problems caused by dislocated lens, defects in the aorta,
additional heart problems.
Individuals with Marfan syndrome are usually tall and slender, have
elongated fingers and toes, and have an arm span that exceeds their
body height. Other…
inheritance. This information can then be used to predict recurrence risk in future generations.
A basic method for determining the pattern of inheritance of any trait (which may be a physical attribute like eye colour or a serious disease like Marfan syndrome) is to look at its occurrence in several individuals within a family, spanning as many generations as possible. For a disease trait, a doctor has to examine existing family members to determine who is affected and who is not. The same information…
FLOW TO THE
PLAQUE BUILD-UP IN
CAN LEAD TO
HEART FAILURE, OR
ASSESS CARDIAC AND RESPIRATORY
STATUS, VITALS, ANY
MANIFESTATIONS OF PAIN, SOB, OR
CHEST PAIN. ENCOURAGE LIFESTYLE
CHANGES TO INCLUDE DIET AND
EXERCISE, MED MANAGEMENT,
GRADUAL AND PROGRESSIVE DIET…
connective tissue typically has cells scattered throughout an extracellular matrix.
Derived from MESODERM
LOOSE: collagenous fibers, elastic fibers, reticular fibers, fibrous connective tissue
SPECIALIZED: adipose, cartilage, bone
defect occurs in CHROMOSOME 15
autosomal dominant genetic disorder of the CONNECTIVE tissue characterized by disproportionately long limbs, lng thin fingers, a relatively tall stature and predisposition to cardiovascular abnormalities, specifically…
does not support a blending theory; parental phenotypes reappear in F2 generation.
C. Pleioptropic Effects
1. __Pleiotropy____describes a gene that affects more than one characteristic of an individual.
2. Examples include Marfan syndrome, porphyria, and sickle-cell anemia.
D. Polygenic Inheritance
1. ____Polygenic Inheritance__________occurs when one trait is governed by two or more sets of alleles.
2. Dominant alleles have a quantitative effect on the phenotype:…
impacting one phenotype are both expressed
O blood type are universal donors
AB blood type are universal receivers
Epistasis- The phenotypic expression of one gene can be affect by another gene
Pleiotropy- One gene affects multiple genotypes (Marfan syndrome)
Polygenic Traits- Multiple genes are responsible for one phenotype (continuous distribution such as hair color)
Sex-Linked Trait- A trait genetically determined by an allele located on the sex chromosome
The Tree of Life:
5 Kingdoms: Plants…
• Occurs during prophase 1 of meiosis 1
Sections 8 10/17 9.7 in the book
• What happens when errors occur in meiosis? Cancer, downs syndrome, birth defects.
• Aneuploidy- cell has too many or too few copies of a particular chromosome: not two! Trisomy- 3 copies monosomy- 2 copies
• The most common aneuploidy in humans trisomy 21 causes down syndrome. extra copy of chromosome 21
• In nondisjunction- members of a chromosome pair fail to separate during anaphase
• Gametes with an incorrect…
region (Cullen’s Sign), Board like abdomen with guarding … Self digestion of pancreas by trypsin.
o Hold tube feeding if residual > 100mL
o In case of Fire … RACE and PASS
o Check Restraints every 30 minutes … 2 fingers room underneath
o Gullain-Barre Syndrome … Weakness progresses from legs upward – Resp arrest
o Trough draw = ~30 min before scheduled administration … Peak Draw = 30-60 min after drug administration.
• Mental Health & Psychiatry
o Most suicides occur after beginning of improvement with…
penis, and some ligaments of the vertebral column.
iv. Elastic tissue also takes the form of wavy sheets in the walls of the large and medium arteries, allowing expansion and recoil of these arteries.
Insight 5.1 Marfan Syndrome—A Connective Tissue Disease
h. Dense irregular connective tissue also has closely packed collagen fibers, but the collagen bundles run in random directions. (Fig. 5.18)
i. Random orientation allows resistance…