ar ant #3 : Five definitions (2 points each) a. Mitochondrial inheritance b. HLA
ID: 270849 • 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
2. a. Genotype is the genetic makeup/composition of an individual which refers to the information contained on two alleles in the cell. On the other hand, phenotype is the detectable expression of the genotype which refers to an expressed and observable trait. Example: TT, Tt and tt represent the genotypes with Tall, tall and dwarf characteristics as expressed phenotype respectively.
2. b. Gonosomes are sex-linked chromosomes, which defines the sex. On the other hand, autosomes are all the other chromosomes which control the body characters or somatic characters. Example: in each human cell, there are 23 pairs of chromosomes. The first 22 pairs are considered autosomal while the 23rd pair is gonosomes/sex chromosomes.
Some examples of autosomal traits are ability/inability to roll tongue, freckles/no freckles, widow's peak/continuous hairline, etc. Two examples of sex-linked traits are Colorblindness and Hemophilia.
2. c. ABO blood group is the major blood system which is determined by the presence or absence of A and B antigens on the surface of the RBCs whereas Rh (rhesus) blood group is determined by D antigen on the surface of the RBC.
ABO system is determined by three alleles two dominant IA, IB and one recessive i) whereas Rh is determined by two alleles (dominant allele D and recessive allele d).
ABO system follows non-Mendelian inheritance (multiple alleles, and codominance) while Rh system follows Mendelian inheritance.
ABO phenotypes are A, B, AB and O whereas Rh phenotypes are Rh+ or Rh-.
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