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LSM1102 (Molecular Genetics) Mendelian Genetics, Variations to Mendelian Genetics, and Population Genetics Continual Assessment (3) Semester 1 Academic

Year 2008-2009 November 2008

(1) In a particular breed of dogs, the hairless condition is produced by the heterozygous genotype (Hh). Normal dogs are homozygous recessive (hh). Puppies homozygous for the H allele are usually born dead with abnormalities of the mouth and absence of external ears. If the average litter size at weaning is six in matings between hairless dogs, what would be the average expected number of hairless and normal offspring at weaning for matings between hairless and normal dogs? (4 marks)

P: F1:

Hairless (Hh) X Hairless (Hh) 1 Lethal (HH), 2 Hairless (Hh), 1 normal(hh) ratio 2 4 2 dead alive alive Hairless (Hh) X normal (hh) 0 Lethal (HH), 1 Hairless (Hh), 1 normal(hh) ratio 0 4 4 dead alive alive

(1 mark) (1 mark)

P: F1:

(1 mark) (1 mark)

So, the average expected number of offspring at weaning is 4 hairless and 4 normals

Reference: Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K, Leeb T. A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science. 2008 Sep 12; 321(5895): 1462.

(2) Two phenotypes appear in an experiment in a ratio 16:4. (a) How well does this sample fit a 3:1 ratio, if there were only 20 samples in the experiment? (b) Would a sample in the same proportion fit a 3:1 ratio if the sample size was 10 times larger than (a)? (c) Would another sample in the same proportion fit a 3:1 ratio if the sample size was 20 times larger than (a)? (6 marks)

Calculate the Chi-squared values and see if it deviates from the 3:1 ratio. (a) Chi-sq = 0.27, did not deviate from 3:1 (p-value at approx 0.5-0.7). (b) Chi-sq = 2.67, did not deviate from 3:1 (p-value at approx 0.1-0.2). (c) Chi-sq = 5.33, deviated from 3:1 ratio (p-value at 0.01 – 0.05).

(2 marks) (2 marks) (2 marks)

(3) Bacterial cells are usually sensitive to antibiotics. Nevertheless, some bacteria can mutate to “become” resistant to the antibiotics. Such “gain-of-function” mutations however occur much less frequently than “loss-of-function” mutations such as mutations resulting in the inability to synthesis a particular product or metabolize a particular substrate. Explain briefly (in a few lines only) why this is so, in the context of antibiotic resistance and loss of metabolic or biosynthetic function(s)? (6 marks)

a “gain-of-function” event in the context of antibiotic resistance could occur due to the distortion of ribosome function which results in it being insensitive or immune to the antibiotics. (3 marks) On the other hand. which would occur 1/16 of the time.04. produces a seed capsule.“Loss-of-function” can potentially occur due to mutations at any site along the coding region of an enzyme or in any gene coding for one or more of the multiple enzymes in a common biosynthetic or metabolic pathway. represented by symbols A and B. aaB_ will all exhibit dominant phenotypes. antibiotics would distort ribosomal function and cause the protein synthesis machinery to malfunction. all potentially resulting in a loss of function. or 15/16 x 100 = 93. approximately 6% of the progeny were found to possess ovoid-shaped seed capsules. (3 marks) (4) A plant of the genus Capsella. Such events would be comparatively rare. What two-factor epistatic ratio is approximated by the progeny? (2 marks) b. commonly known as “shephard’s purse:. (The dominant conditions A_ or B_ is epistatic to either recessive conditions. then the organism would thus have a “gain-of-function” (antibiotic resistance). When dihybrid plants were interpollinated. A_bb. (Duplicate Dominant Genes Epistasis).06 x 16 = 0. (2 marks) . In the rare occasion however when the antibiotic results in a distortion of the ribosomal function such that it becomes immune to the antibiotic interference and at the same time still preserve the way components interact during protein synthesis. the shape of which is controlled by two independently assorted genes. Generally. (2 marks) (b) The genotype of the ovoid-shaped seed capsule is aabb.96. The chances of such mutation occurring is thus comparatively high since many possible mutation events could occur. The other 94% of the progeny had triangular-shaped seed capsules. such that A_B_.75) and 6% of 16 is approximately 1 (0. or ~1) Thus the ratio represented by the progeny is approximately 15 triangular : 1 ovoid. a. What is the genotype of the ovoid-shaped seed capsules? (2 marks) (a) 94% of 16 is approximately 15 (0.94 x 16 = 15.