4. (1) How many females and males are affected in this pedigree? (2) Who is the proband? II (3) How many generations are included? 1 2 3 4 7 (4) What kind of inheritance pattern is the disease- causing allele in this pedigree? Why? 1 2 3 4 5 6 7 8
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- How many affected females and males does this pedigree show? (2) Who is the proband? (3) How many generations are included? (4) What kind of inheritance pattern is the disease-causing allele in this pedigree? Why? (5) Who have the same genotype as the proband? Why?Background information for problem #5 In humans there is a gene that controls formation of hemoglobin (the protein in red blood cells {RBC's} that is responsible for carrying oxygen to the tissues of the body). The normal allele of this gene codes for normal hemoglobin. However, there is another allele for this gene that contains a mutation in the DNA and the resulting hemoglobin protein is defective. An RBC with this defective hemoglobin will, under stress, crystallize within the cell and cause a characteristic sickle shape. While the letters S and s are often used to represent these alleles, in reality neither is dominant to the other (codominant). Someone who is SS makes all normal hemoglobin, someone who is ss makes all abnormal hemoglobin (someone who has sickle-cell anemia), and someone who is Ss essentially has two sets of instructions (and so makes some of each kind of hemoglobin; often referred to as sickle-cell trait). Because the RBC's of a person who is ss contain all…5.) A man and a woman living in a tropical area where malaria is prevalent and health care is not accessible have seven children during their lifetime. The genotypes of their children are: ss, Ss, SS, ss, Ss, Ss, and SS. What must the genotypes of both parents be? Your answer should include a Punnett square to illustrate your work, and list all the genotypes and phenotypes.
- 1. The figure below shows a pedigree examining the presence of a genetic disorder across multiple generations of a family. Based off this figure, answer the following questions prompted: || IV 3 9 10 5 2 C 6 11 T 7 12 8 15 13 16 14 17 d) What is the genotype for individual #4 in this family pedigree? ||| c) Why are no family members identified as a carrier of this genetic disorder? Figure Key a) Using the figure key provided, identify which members of this family are affected by this genetic disorder in each generation. (Be sure to include sex and generation number for each individual identified). b) Is this an autosomal recessive, autosomal dominant, or sex-linked genetic disorder? Explain. Unaffected Female Unaffected Male Affected Female ||| Affected Male Female Carrier Male Carrier2. 9, 1 pts Cystic fibrosis is a disease which is caused by a defective CFTR gene. This form of the gene is recessive. Let "N"=normal CFTR gene and "n" = abnormal CFTR gene. What is the genotype of individual 1 in generation I? 1. %3D 2 3 II 2 3. 5. O NN O Nn O Either NN or Nn10. Examine the pedigree from a family with a genetic disease and answer the questions below: 1:1 1:2 I1:1 II:2 I1:3 Il:4 II:5 I1:6 II:1 III:2 II:3 I:4 III:5 II:6 a) Does this pedigree indicate autosomal dominant, recessive or sex- linked type of inheritance? Give reasons for your choice. b) Assuming that B and b are the normal and mutant alleles respectively, what would be the genotypes of the individuals: II.1, II.2 and III.3 ? c) Individual II.3 requested genetic counselling. What is the probability that her child would be affected. Explain why.
- 11. Below is a pedigree chart of an autosomal recessive disorder. Answer the following questions using the correct genetic terminology (do not just write letters like “Ee”). A. What is the genotype of individual 1 in generation II? B: What is the genotype of individual 2 in generation I?C: Is it true that individuals 6, 7, 8, 9, and 10 in generation III all have the same genotype? Why or why not?II. Given the following pedigree below, use Punnett squares for each of the following possibilities: a) Autosomal recessive and b) Autosomal dominant in order to determine what is the mode of transmission of this trait. Disease allele = a or A, depending on mode of transmission of the disease respectively. Your Punnett squares should reflect what you see in generation II. Circle the mode of transmission. Note: Observe the whole pedigree. I Circle the mode of transmission 1 III 6 genotype (circle one): AA Created by Dr. Susan A. Holechek for BIO 340 (2023) 2 1 2 3 4 a) Autosomal recessive 11 x 12 9 XªXa 2 3 5 6 Ở хаха *4 7 b) Autosomal dominant 11x12 8 Aa *Unaffected/No carrier-Normal AaAa1. The pedigree below shows the incidence of rare, autosomal dominant disorder called Ehlers-Danlos disease. The pedigree covers three generations of a particular family and also shows individual genotypes at a potential marker locus (M). a) Indicate the phase of all gen II and III individuals. DdM1M3 ddM2M6 II DDM3M6 ddM4M5 III DdMзM4 DdMЗМ5 DDM3M4 ddM3M5 DDM3M4 ddM5M6 DDM3M4 ddM4M6 ddM5M6 ddM5M6 b) Which, if any, of the gen III individuals are recombinants? c) Calculate the LOD score as a test of physical linkage between the marker (M) and the disease locus. d) What do you conclude about linkage between D and M?
- Why is it more efficient to perform a test cross with a homozygous recessive donor than a homozygous dominant donor? How could the same information still he found with a homozygous dominant donor?What the grandparents' genotypes are? Why doesn’t the father (II-1) have the disease breast cancer? What is the formal name for an individual having the gene but not showing the trait? For this particular family, what is the recombination rate between the D17S74 marker and the breast cancer gene?23. Which of the karyotypes shown is from a normal female? (LS3-1) * A 10 10 11 16 15 10 17 18 88 88 88 88 10 20 21 22 23 19 20 21 22 23 D XKI B XXI 10 11 15 10 88 88 10 20 21 22 23 19 20 21 22 23 Karyotype A Karyotype B Karyotype C Karyotype D 然