Human Genetics

Human Genetics
Project description
A genetics assignment that is a combination of multiple choice, true or false and short answers. its all based on introduction to genetics and most of the material is from a book called (Human Genetics) Concepts and Applications Eighth edition by Ricki Lewis p.s please get the answers from this book 8th edition, include page numbers in the in-text citation as well otherwise the assignment wont be good.
Assignment 2
This assignment is marked out of 100 possible points and is worth 15% of your final grade. Complete it after you have finished Unit 8, and submit it to your tutor for grading. Please submit this assignment via the appropriate Assignment Drop Box. If you require an alternative submission method, please contact your tutor. Note: Assignments sent via post mail should include a Tutor-Marked Exercise Form.
Answer the questions in your own words, using full sentences where applicable.
For each of questions 1 5, select the most appropriate response, and explain your choice. (3marks each; total = 15 marks)
1. Mitochondrial inheritance is
a. maternal.
b. sex-limited.
c. sex-influenced.
d. genomic.
e. rare.
Explain:
2. An individual who has ____________ is male.
a. development of the Müllerian ducts
b. an MSY region
c. an SRY gene and no testes
d. indifferent gonads
e. degradation of the Wolffian ducts
Explain:
3. A normal female human is expected to have
a. a mosaic phenotype.
b. X-inactivation of both X chromosomes in a somatic cell.
c. traits associated with the SRY transcription factor.
d. one Barr body in each somatic cell.
e. two of the above.
Explain:
4. Which of the embryo possibilities described below would most likely result in repeated miscarriages?
a. heterozygous for a lethal allele
b. homoplasmy for a normal allele
c. homozygous for lethal alleles
d. lack of penetrance for a lethal allele
e. heteroplasmy
Explain:
5. Genomic imprinting is an example of
a. heterogeneity.
b. epistasis.
c. pleiotropy.
d. an epigenetic effect.
e. a phenocopy.
Explain:
6. Match each descriptor or example in the right-hand column to the best term in the left-hand column. Use only one descriptor per term and one term per descriptor. (10 marks)
Term Descriptor/example
1. ____ linkage disequilibrium a. refers to male mammals
2. ____ sex-limited trait b. inherited together
3. ____ heterogametic c. difference in expression due to internal environment
4. ____ heritability d. caused by restrictions to crossing over
5. ____ hemizygous e. aIDitive effects of two or more genes
6. ____ haplotype f. dosage compensation
7. ____ sex-influenced trait g. discrete expression
8. ____ polygenic h. males expressing an X-linked recessive trait
9. ____ qualitative trait i. testicular cancer
10. ____ X-inactivation j. variation in phenotype due to genetic variation
7. An organism has 16 chromosomes in its somatic cells. Determine
the number of gametes with different chromosome compositions that it can potentially create. Explain your answer. Ignore the allelic variation created by crossing over. (3 marks)

8. In the following pedigrees, the disorders or traits presented follow simple patterns of Mendelian inheritance. For each trait, determine the most probable mode of inheritance, stating whether the trait is due to an autosomal or X-linked gene, and a dominant or recessive allele. In each case, indicate and explain the evidence for each pattern, giving at least one statement and example from the pedigree to defend each part of your analysis. Then, providing a legend for your symbols, assign genotypes to the specified individuals. (15marks)
a. Provide genotypes for individuals II-5, III-6, III-11.

b. Provide genotypes for individuals I-5, II-5, III-3, IV-3.

9. Achondroplasia is an autosomal dominant disorder associated with a gene on chromosome 4. Sickle cell anemia is due to a gene on chromosome 11. A man and a woman with achondroplasia, who each had a normal parent, are carriers for sickle cell anemia.
a. Give the genotypes of these individuals; provide a legend for your symbols. (2 marks)
b. Construct a Punnett square to determine the possible types of offspring these two people could have together. (4 marks)
c. Summarize the Punnett square to list the genotypes and their ratio. (2 marks)
d. List the possible phenotypes and the expected proportions of these phenotypes. (2marks)
e. What is the name for this type of cross? (1 mark)
f. If these genes had been on the same chromosome, would you expect the same results for potential offspring? Why or why not? (4 marks)
10. A woman is heterozygous for three X-linked loci: AaBbID. She has seven sons with the following genotypes: (7 marks)
two are X ABd Y
three are X abD Y
one is X ABD Y
one is X Abd Y
a. What is the most likely combination of alleles on each of the mother’s X chromosomes?
b. Which of the seven sons is/are the result of recombination? Between which genes did the crossover occur in the mother’s oocyte to create each recombinant X?
c. List the other possible recombinant genotypes that have not appeared in these sons.
11. Based on the simplified two-gene model for eye colour, explain using genotypes how two blue-eyed parents could produce a brown-eyed child. (4 marks)
12. In what ways is genomic imprinting similar to X-inactivation? In what ways is it different? (6 marks)
13. In a twin study of 1000 MZ pairs, 625 pairs were found to have both twins with the same form of a given trait. In a study of 1000 DZ twins, 426 pairs were found to have both twins with the same form of that trait. (5 marks)
a. What parameter can be calculated from this data?
b. Calculate it for MZ twins and DZ twins, showing your calculations.
c. What does this parameter tell us about this trait?

14. Choose a current newspaper article (no older than two years before the start of your course contract) that describes a genetic study.* Summarize the information presented in the article in paragraph form. Your article should have enough information to aIDress all or nearly all of the following points in your summary. Include any other information relevant to your studies in this course, as provided in the article. (20 marks)
a. Describe the phenotype of the trait.
b. Describe the genetic basis of the trait, identifying known genes, other genes involved, and any contributing environmental factors (or other information provided) that are relevant to expression of the trait.
c. Name the mode of inheritance if it is given or if you can deduce it.
d. Describe the particular type of mutation, as applicable.
e. Describe the related protein and its normal and mutant effects.
f. Identify any genetic technologies used in the study.
g. Does the author make any errors in use of terminology?
Submit a copy of the article (original, copy, or pdf attachment) and provide a complete reference. Information on citing and referencing is available through the AU Library Help Centre, accessible through the
AU homepage.
Do not research the trait beyond the scope of the article. The intent is for you to critically read information presented in the popular press and summarize or interpret it in your own words, using your knowledge of the Objectives you have studied thus far in the course.