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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: Hairless (Hh) X Hairless ( Hh ) F1: 1 Lethal (HH), 2 Hairless (Hh), 1 normal(hh) ratio (1 mark) 2 4 2 (1 mark) dead alive alive P: Hairless (Hh) X normal (hh ) F1: 0 Lethal (HH), 1 Hairless (Hh), 1 normal(hh) ratio (1 mark) 0 4 4 (1 mark) dead alive alive

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). (2 marks) (b) Chi-sq = 2.67, did not deviate from 3:1 (p-value at approx 0.1-0.2). (2 marks) (c) Chi-sq = 5.33, deviated from 3:1 ratio (p-value at 0.01 – 0.05). (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)

“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. The chances of such mutation occurring is thus comparatively high since many possible mutation events could occur, all potentially resulting in a loss of function. (3 marks)

On the other hand, 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. Generally, antibiotics would distort ribosomal function and cause the protein synthesis machinery to malfunction. 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, then the organism would thus have a “gain-of-function” (antibiotic resistance). Such events would be comparatively rare. (3 marks)

(4) A plant of the genus Capsella, commonly known as “shephard’s purse:, produces a seed capsule, the shape of which is controlled by two independently assorted genes, represented by symbols A and B. When dihybrid plants were interpollinated, approximately 6% of the progeny were found to possess ovoid-shaped seed capsules. The other 94% of the progeny had triangular-shaped seed capsules.

a. What two-factor epistatic ratio is approximated by the progeny? (2 marks)

b. What is the genotype of the ovoid-shaped seed capsules? (2 marks)

 (a) 94% of 16 is approximately 15 (0.94 x 16 = 15.04; or 15/16 x 100 = 93.75) and 6% of 16 is approximately 1 (0.06 x 16 = 0.96, or ~1) Thus the ratio represented by the progeny is approximately 15 triangular : 1 ovoid. (Duplicate Dominant Genes Epistasis). (2 marks) (b) The genotype of the ovoid-shaped seed capsule is aabb , which would occur 1/16 of the time. (The dominant conditions A_ or B_ is epistatic to either recessive conditions, such that A_B_, A_bb, aaB_ will all exhibit dominant phenotypes. (2 marks)