Genetic Diseases and Mechanisms

8 flashcards · Other · by John Mark Webb

1. Sickle Cell Anemia blood vessels become occluded alpha globin has 141 amino acids beta globin has 146 amino acids in normal hemoglobin protein, the 6th amino acid on the beta-globing strand is glutamate, a charged amino acid in sickle hemoglobin protein, the 6th amino acid on the beta-globing strand is valine, a neutral amino acid factors involved in severity: diet and general health, genetic condition, environment there are 5 target organs: spleen liver lungs bones kidneys

   This is an autosomal recessive disease.

2. Malaria Plasmodium is a protozoan that reproduces in the red blood cell of a human in 24, 48, and 72 hour cycles in AA individual, the merozoites enter the RBC and reproduce to achieve high numbers in the RBC RBC will lyse die to toxins produced and stress of 10000 schizozoites fever and chills

3. Cystic Fibrosis chloride gating mechanism of goblet cells is disrupted and creates an excessive thick mucus protein CFTR (Cystic Fibrosis Transmembrane conductance Regulator) 70% of CF cases is deletion of 3 bases which is 1 amino acid diagnosis: abnormal salt in sweat, PCR of genetic defect target organs of CF: airways - clogging and infection of bronchial passages impeded breathing liver - plugging of small bile ducts pancreas - occlusion of ducts prevents pancreas from delivering digestive e…

   This is an autosomal recessive disease.

4. Tay Sachs Disease affects specific ethnic group of Ashkenazi Jews caused by a deletion or point mutation most common cause is introduction of a stop codon 100 mutations help identify TS 90 mutations are early onset 10 mutations are late onset diagnosis: cherry red spot in retina, PCR problems: loss of mental faculties around 6 months old; loss of muscular control mechanism: defective hexosaminidase A (enzyme)... it breaks down ganglioside GM2, a lipid component of nerve cell membranes... withou…

   This is an autosomal recessive disease.

5. Phenylketonuria (PKU) affects Irish ethnic group mechanism: defective phenylalanine hydroxylase enzyme... made in the liver and converts phenylalanine to tyrosine... inactive in affected individuals... phenylalanine accumulated in liver and converted to other derivatives which spill into the urine... both phenylalanine and derivatives enter CSF and reach the brain causing intellectual disability protein is 451 amino acids, less than 2% of gene most common mutation results in splicing out of exo…

   This is an autosomal recessive disease.

6. Albinism affects ethnic group of Hopi Amerindians mechanism: defective tyrosinase enzyme... tyrosine is not converted to melanin... problems: lack of pigment, increased skin cancer, possible shorter lifespan treatment: clothing, sunscreen, remaining indoors

   This is an autosomal recessive disease.

7. Cretinism mechanism: inability to produce thyroxin... inadequate thyroid activity or lack of thyroid altogether... diagnosis: PCR problems: inhibits brain development, inhibits growth, low metabolism (lethargic) excellent survival treatment: supplemental thyroxin

   This is an autosomal recessive disease.

8. Dominant diseases 4 characteristics: 50% transmission 1 parent has disease structural vs. enzymatic diseases lethal as homozygous persistance: spontaneous mutations vs. inherited variable expressivity post-reproductive symptoms exhibited