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BIO152 Genetics problems Tutorial 8 November 10 11/9/2006 1 Tutorial 8 outline 11/9/2006 2 1 Free lunch for your feedback Lecturer candidates for concurrent Teacher Ed Program starting UTM fall 2007 3 lunch seminars 12-1:30 Must attend at least 2 Tuesday Nov 14 &Thursdays Nov 23 & 30 Must attend at least 2 Complete Feedback form Email [email protected] 11/9/2006 3 Lec 17-Question 3 A B/a b x ?? for testcross (what is the testcross_________). If the two loci are 10 m.u. apart, what proportion of progeny will be A B/a b? 11/9/2006 4 2 3- answer You perform the following cross and are told that the two genes are 10 m.u. apart. A B/a b x a b/a b Among their progeny, 10 percent should be recombinant (A b/a b and a B/a b) and 90 percent should be parental (A B/a b & a b/a b). Therefore, A B/a b should represent 1/2 of the parentals or 45 percent. 11/9/2006 5 Lecture 17-Question 4 R and S are loci 35 m.u. apart. If the plant of genotype R S/r s is selfed, what progeny phenotypes will be seen and in what proportions? (once you know the genotype you can determine the phenotype proportions) 11/9/2006 6 3 4- answer P R S/r s x R S/r s gametes genotypes & expected proportions: 1/2 (1 – 0.35)R S parental 1/2 (1 – 0.35)r s parental 1/2 (0.35) R s recombinant 1/2 (0.35) r S recombinant 11/9/2006 7 4-Answer continued F1 genotypes 0.1056 R S/R S 0.1056 r s/r s 0.2113 R S/r s 0.1138 R S/r S 0.1138 R S/R s Phenotypes 0.6058 R S 0.1056 r s 0.1444 R s 0.1444 r S 11/9/2006 0.1138 r s/r S 0.1138 r s/R s 0.0306 R s/R s 0.0306 r S/r S 0.0613 R s/r S 8 4 Pedigree from Lec 16 I II III IV If dominant what is the chance that III6 will have affected children? If recessive who are obligate carriers (heterozygous) 11/9/2006 Who are at risk of being carriers? 9 I II III IV If dominant what is the chance that III6 will have affected children? zero If recessive who are obligate carriers (heterozygous) I2, II1, II5, II6, II8, III1, III2, III4, III5, III6, III7, IV1 Who are at risk of being carriers? III11, III12 all with chance 50% 11/9/2006 III10, 10 5 Construct a pedigree (Lec 16) Alice and Bob have a two year old son, Charles, who is showing mental retardation, short stature, micropenis, and cryptorchidism. Alice has two living, unaffected, brothers but her eldest brother died at age 9 and a second brother died aged 10 months. Both had similar problems to Charles. Alice's father, David, who was symptomless, has a sister, Ethel, who has an unaffected boy and girl, and a brother, Fred, who also has two unaffected children. Alice's mother, Gertrude, has two living sisters and had a brother who had died in childhood and who, she remembers, had been mentally retarded. Bob has two brothers, Henry and Ignatius, who are still unmarried. His parents, John and Kate, had tragic lives, both were adopted and never knew their biological parents and both died as the result of a road accident. 11/9/2006 11 Nuclear family in question A = Alice mom B = Bob dad C = affected son Charles 11/9/2006 • Step 1 12 6 Alice’s (A) family Alice & her 4 brothers are connected vertically to a horizontal line which is, in turn, connected to the line drawn between her parents David and Gertrude. Her two dead brothers (whom we presume died of the same genetic disease - though this can sometimes be a foolish assumption without medical evidence) are shaded in (to show that they suffered from the disease) and are crossed through (to show that they are dead). Step 2 11/9/2006 13 Construct a pedigree-Step 3 • Now add (Alice’s mother) Gertrude's siblings to the pedigree. • And (Alice’s father) David's siblings and his nephews & nieces • Finally add Bob's side of the family 11/9/2006 14 7 What is the most likely pattern? 11/9/2006 15 (Lec 16) Inheritance pattern? #1 11/9/2006 16 8 answer #1autosomal dominant 11/9/2006 17 (Lec 16) Inheritance pattern? #2 11/9/2006 18 9 Answer #2 autosomal recessive I3 & I4 must be carriers to have an affected son Affects both sexes equally 11/9/2006 19 #3 www.langara.bc.ca/.../mario/Assets/pedigr ee3.gif 11/9/2006 20 10 #3 autosomal recessive www.langara.bc.ca/.../mario/Assets/pedigr ee3.gif 11/9/2006 21 What is the most likely pattern of inheritance? Autosomal recessive ? Autosomal dominant ? X-linked recessive ? 11/9/2006 22 11 answer Autosomal dominant: • roughly half of the offspring of affected persons are themselves affected, • that every affected person has an affected parent • X linkage is ruled out by male to male transmission. • the other two answers were possible but unlikely. 11/9/2006 23 Probability of Autosomal recessive • three people half shaded would all need to be carriers marrying into the family. This is possible but how likely it is depends on the frequency of carriers in the population. • disease affects one birth in 10,000 how frequently will random members of the population turn out to be carriers? 11/9/2006 24 12 To calculate the frequency of carriers of a condition with a frequency of homozygotes of one in 10,000 you need to use the Hardy Weinberg formulae: P2 +2pq + q2 =1 p+q =1 q2 = 1/10,000 = .0001 q= .01 p= .99 2pq=.02 So in that case the likelihood of three carriers is approximately (1/50)3 which is 1 in 125,000 which is unlikely 11/9/2006 25 Probability of X linked recessive? Which of these two facts argues more strongly against X linkage? 1. The transmission of the condition from male to male, (I3 to II7) 2. The transmission of the condition to females 11/9/2006 26 13 1. The transmission of the condition from male to male, (I3 to II7) it is almost impossible for a father to pass his X chromosome to a son, and certainly not to a fertile son. [two possible exceptions to this rule, XX males and XXY Klinefelter's syndrome. Both are rare and both are infertile. 11/9/2006 27 The transmission of the condition to females frequency of this genetic disease is1 in 10,000, how likely is it that a female marrying into this family is a carrier of this condition if it is X linked? the disease frequency is 1 person in 10,000 is almost the same as saying 1 male in 5,000 use Hardy-Weinberg to estimate the frequency of carrier females 11/9/2006 28 14 The gene frequency 1 in 5000 (q in the Hardy Weinberg formula) In the case of X linked genes, males come in two types, normal and mutant, at frequencies p and q. Females, who have two X chromosomes, come in three types, homozygous normal (frequency p2), heterozygotes (frequency 2pq) and homozygous mutant (frequency q2). 11/9/2006 29 if this gene is X linked then the frequency of carrier females would be about 0.0004 or 1 in 2500 The two people half shaded must have been heterozygotes. This is possible but not likely. Chance would be about 1/2500 × 1/2500 which is 1 in 6.25 million. 11/9/2006 30 15 Genetic questions posted for Tutorial 6 1. A sexually reproducing organism is heterozygous for two genes located on different chromosomes, one for ear shape and one for toe length. Its genotype is AaBb. Which of the following genotypes is most probable in a gamete from this organism? a. b. c. d. e. AB AaBb Aa Bb A 11/9/2006 31 1-Answer 1. A sexually reproducing organism is heterozygous for two genes located on different chromosomes, one for ear shape and one for toe length. Its genotype is AaBb. Which of the following genotypes is most probable in a gamete from this organism? a. b. c. d. e. 11/9/2006 AB AaBb Aa Bb A 32 16 #5 #5. Two mice are heterozygous for albinism (Aa). The dominant allele (A) codes for normal pigmentation, and the recessive allele (a) codes for no pigmentation. What percentage of their offspring will show albinism? a. 25 percent b. 50 percent c. 75 percent d. 100 percent 11/9/2006 33 5-Answer #5. Two mice are heterozygous for albinism (Aa). The dominant allele (A) codes for normal pigmentation, and the recessive allele (a) codes for no pigmentation. What percentage of their offspring will show albinism? a. 25 percent b. 50 percent c. 75 percent d. 100 percent 11/9/2006 34 17 #20 #20 A man and woman are both of normal pigmentation, but both have one parent who is albino (without melanin pigmentation). Albinism is an autosomal (not sex-linked) recessive trait. What is the probability that their first child will be an albino? A. B. C. D. E. 0% 1/8 1/2 1/4 100% 11/9/2006 35 Answer #20 A man and woman are both of normal pigmentation, but both have one parent who is albino (without melanin pigmentation). Albinism is an autosomal (not sex-linked) recessive trait. What is the probability that their first child will be an albino? A. 0% B. 1/8 C. 1/2 D. ¼ (what about the 1st child albino AND a girl?) E. 100% What is the probability of their second child being an albino? 11/9/2006 36 18 #7 #7 If the first five seeds (offspring) grown from a cross between two heterozygous parent peas with the genotype Rr are all round, what is the probability that the next offspring will be wrinkled? a. 0% b. 100% c. 25% d. Cannot determine from the information given 11/9/2006 37 7-Answer #7 If the first five seeds (offspring) grown from a cross between two heterozygous parent peas with the genotype Rr are all round, what is the probability that the next offspring will be wrinkled? a. 0% b. 100% c. 25% d. Cannot determine from the information given 11/9/2006 38 19 #16 & #17 If an organism is heterozygous for two traits that are linked, how many different genotypes are possible in the gametes? #16. Assume no crossing over occurs. #17. if even a single crossing over event occurs? a. b. c. d. 1 2 4 8 11/9/2006 39 16&17-ANSWER If an organism is heterozygous for two traits that are linked, how many different genotypes are possible in the gametes? #16. Assume no crossing over occurs. b. 2 #17. if even a single crossing over event occurs? C. 4 11/9/2006 40 20 Another problem… Suppose two AaBbCc individuals are mated. Assuming that the genes are not linked, what fraction of the offspring are expected to be homozygous recessive for the three traits? A. 1/4 B. 1/8 C.1/16 D.1/64 E. 1/256 11/9/2006 41 Another problem… Suppose two AaBbCc individuals are mated. Assuming that the genes are not linked, what fraction of the offspring are expected to be homozygous recessive for the three traits? A. 1/4 B. 1/8 C.1/16 D.1/64 [ ¼ x ¼ x ¼ ] E. 1/256 11/9/2006 42 21 How many unique gametes could be produced through independent assortment by an individual with the genotype AaBbCCDdEE? A. 32 B. 4 C. 16 D. 8 E. 1/64 [hint: apply the formula (2n), where n represents the number of heterozygous gene pairs.] 11/9/2006 43 Hint apply the formula (2n), where n represents the number of heterozygous gene pairs. Aa BbCCDdEE = 23 =8 possible unique gametes 11/9/2006 44 22