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Refsum Disease Refsum disease is a genetic disorder that is inherited in an autosomal recessive pattern. Individuals with adult Refsum disease do not have the enzyme to breakdown phytanic acid. As a result, phytanic acid accumulates in the brain, blood, and body tissues. As the disease progresses, individuals with Refsum disease experience loss of vision, hearing, and sense of smell, as well as balance and coordination problems. In a population, the frequency of the recessive allele for Refsum disease is 0.28. What is the expected frequency of the carriers in this population? Show all your work. Record your answer as a value between 0 and 1 rounded to two decimal places. (2 marks) B I HIT E E U Ꭶ X2 x? I 3 С frequency of recessive allele q = 0.28 frequency of dominant allele p= 1-0.28 = 0.72 carrier frequency 2* px q = 2 x 0.72 x 0.28 = 0.4032 =0.40
In a randomly mating population of mice, 3 out of 200 mice are anemic. Anemia is a recessive condition where the affected mice do not have enough red blood cells to carry the required oxygen molecules to the tissues, What is the expected frequency of the homozygous dominant genotype for anemia in this population? Show all your work. Record your answer as a value between 0 and 1 rounded to two decimal places. (2 marks) AA B I E U Ꭶ X₂ x2 = 1 С t С frequency= number of individuals / total number of individuals genotypic frequency (99) =3 / 200 q2 =0.015 p+q=1 p2 + 2pq + q2 =1 allele frequency (q) = q2 = 0.015 q = 70.015 q=0.12 frequency of dominant allele = p=1 - 9 p=1 - 0.122 p= 0.88 homozygous dominant genotype frequency = p? =(0.88)2 pa=0.774 populaton = 0.77
If 94% of a fruit fly population has red eyes, a dominant trait, what percentage of this population would you expect to be heterozygous for this trait? Show all your work B I O U ob Х2 x2 С :: t ✓ С 100-9456% frequency of recessive genotype (99)= 6/100 = 0.06 frequency of recessive allele qq = 0.06 = 0.24 frequency of allele (p= 1-q=1-0.24=0.76 heterozygous= 2pq x 100= 2* 0.76 x 0.24 x 100 = 36.48%
Canavan Disease Canavan disease is an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase, resulting in an incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience a lack of motor development, abnormal muscle tone, and difficulty feeding. Most individuals affected by this disease die before age 10. In a particular population in Canada, researchers examined 1850 people for Canavan disease and found that 10 of them had the disorder. 1. What is the frequency of Canavan disease in the population examined by the researchers? (1 mark) 2. How many individuals are unaffected carriers of the disease? (2 marks) Show all your work. A4 B I HI . U Ꭶ X₂ x I C r с > X 10/1850=0.00054 q=0.0054 = 0.0734 p=1-q= 1-0.0734=0.9266 2pq=2(0.0734)(0.9266)=0.136 (1-0.94) 9=0.06=0.2449 p=1-0.2559= 0.7551 2pq= 2(0.2449)(0.7551)=0.3698 q=0.28= 0.5291 p=1-9-1-0.5291=0.4709 2pq=2(0.5291/0.4709=0.4983 =0.5
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