ar ant #3 : Five definitions (2 points each) a. Mitochondrial inheritance b. HLA
ID: 270799 • Letter: A
Question
ar ant #3 : Five definitions (2 points each) a. Mitochondrial inheritance b. HLA-system c. Translocation d. Frame-shift mutations e. Bombay phenomenon 2. Describe common and different features between the two terms (3 points each) a. Phenotype vs. genotype b. Autosomal vs. gonosomal chromosomes c. ABO vs. Rhesus system 3. n he family below, individuals I- 3 and 1l-4 (a couple) wish to know the risk of having a child with autosomal dominant disorder that affects 1-2, l1-1 and I1-3 (the penetrance of the disorder is 75%). Estimate the risk for them. (5 points) 4. List major categories of chromosome abnormalities. (6 points)Explanation / Answer
Answer- 1.
(A) Mitochondrial inheritance: defined as an inheritance in which mitochondrial DNA encode trait is transmitted to offspring. In case of human mother give mitochondrial inheritance to its offspring.
Answer-(B). HLA (Human leukocyte antigen) system : it is a gene compex which encodes the MHC (major histocompatibility complex) proteins, these proteins help to regulate the human immune system.
(C) Translocation : it is defined as the movement of a segment from one chromosome to another chromosome. Thus, genetical material is changed between different chromosomes.
(D) Frame shift mutations: it is defined as a genetic mutation occused as a result of insertion or delation of DNA gene sequences which is not divisible by three. And which may produce non functional proteins .
(E) Bombay phenomenon : it is a very rare genetic trait in which the phenotypes ( genetically hh) have no H gene which produce H antigen. The H antigen is a precursor for A antigen and B antigen and therefore the blood cells lack A, B and H antigens.
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