Question

Biology 2101           “Human Genome Project” Assignment           2019

Name:                                                                                    Lab Section:

For each disorder, you are required to answer ALL the following:

Disorder #1: Gaucher's disease	Chromosome(s) and locus: 1q22	Associated Gene(s):	Associated Protein(s) (3 max):
Physical traits affected by this disorder: include in-text references
Disorder #2: Pendred syndrome	Chromosome(s) and locus:	Associated Gene(s):	Associated Protein(s) (3 max):
Physical traits affected by this disorder: include in-text references Abnormalities in the development of cochlea, sensorineural hearing loss, and diffuse thyroid enlargement. (Everett et al., 1997).
Disorder #3: Danon disease	Chromosome(s) and locus:	Associated Gene(s):	Associated Protein(s) (3 max):
Physical traits affected by this disorder: include in-text references
Disorder #4: Von Willebrand disease	Chromosome(s) and locus:	Associated Gene(s):	Associated Protein(s) (3 max):
Physical traits affected by this disorder: include in-text references

Literature Cited:

Answer 1

A) Gaucher Disease

Gaucher disease is an autosomal recessive inherited disorder of metabolism where a ttype of fat called glucocerebroside cannot be adequately degraded

• Chromosome and locus : The gene associated with this disease is located on chromosome 1q21
• Genes associated : The major gene associated with gaucher disease is GBA . Mutations in GBA causes Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. this enzymes breaks down a fatty substance called glucocerebroside into glucose and a fat molecule called ceramide. mutations in GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme glucocerebrosidase can build up toxic levels within the cells. tissues and organs are damaged by this abnormal accumulation of these substance
• Proteins associated : Glucocerebrosidase
• Physical traits associated with this disorder : bone disease , skin changes , enlarged liver and spleen , lung diseases . Baris NH et al., 2014

B) Pendred disease

• Chromosome and locus : The genes associated with this disease is located on chromosome 7q22
• Genes associated : Mutations in gene SLC2644 causes pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. this protein transport negatively charged ions into and outo cells. Pendrin is importsnt for maintaining the proper levels of ions in the thyroid and the inner ear. Mutations in the SLC26A4 gene alter the function of pendrin which disrupt ion transport. Imbalance of particular ions disrupts the function of thyroid gland and inner ear
• Proteins associated : pendrin
• Physical traits affected : abnormalities in the development of cochlea, hearing loss and diffuse thyroid ( Everett et al., 1997)

C) Danon disease

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle.

• Chromosome and locus : The causes danon disease is located on Xq24
• Genes associated :Mutations in LAMP2 gene causes Danon disease
• Proteins associated : Lysosomal associated membrane protein 2. Three isoforms of LAMP2 proteins are 1) LAMP-2A : This protein is in the lysosomal compartment> and serves as a receptor for the uptake of proteins for lysosomal degradation. 2) LAMP-2B : The role of this protein is unclear 3) LAMP-2C
• Physical traits affected : cardiac electrical abnormalities, myopathy , nuerological manifestations (Froissart R et. al., 2004)

D) Von willebrand disease

Von willebrand disease is a most common inherited bleeding disease.

• Chromosome and locus :The gene that encodes VWF is located on the short arm of chromosome 12
• Genes associated : VWF(Von willebrand factor gene
• Proteins associated : VWF protien
• Physical traits affected by this disease: bleeding from the gums, bruising sometimes with lumps forming under the skin, longer heavier menstrual bleeding ( Sadler JE et. al., 2006)