MLS 330 Clinical Immunohematology I Section 1: Fundamentals of Genetics: Blood Bank Applications Assignment 1

Due 23 Jan 2012

1.

Mendel determined that the tall trait in plants was dominant and short was recessive. a. When two heterozygous tall plants are crossed, what is the expected ratio of tall to short plants? i. 3:1 b. When a homozygous tall plant is crossed with a homozygous short plant, what is the expected ratio of tall to short plants? i. 4:0 c. When two homozygous tall plants are crossed, what is the expected ratio of tall to short plants? i. 4:0 Which Mendelian Law is demonstrated in the examples given in question 1? i. The Law of Independent Segregation

2.

3.

Mendel determined that the tall trait in plants was dominant and short was recessive. Mendel also determined that the yellow seed trait is dominant and green seed is recessive. What is the expected outcome when the following are crossed: a. Heterozygous tall, heterozygous yellow seed with a heterozygous tall, heterozygous yellow seed. TY Ty tY ty TY TTYY TTYy TtYY TtYy Ty TTyY TTyy TtyY Ttyy tY tTYY tTYy ttYY ttYy ty tTyY tTyy ttyY ttyy Tall Yellow: 9 Tall Green: 3 Short Yellow: 3 Short Green: 1 Ratio: 9:3:3:1 b. Homozygous tall, homozygous green seed with a homozygous short, homozygous green seed. All plants will be tall with green seeds 4. Which Mendelian Law is demonstrated in the examples given in question 3? The law of independent assortment 5. Define dominance

Dominance is the tendency of one allele to take precedence over another. This creates a relationship in which (in complete dominance) a single copy of an allele will trigger the expression of that alleles phenotype even in the presence of the variant form of the allele 6. Define recessiveness

Recessiveness is the tendency of an allele to be masked by a more dominant varient. The phenotype of a recessive allele will only be expressed when no copies of the dominant variant are present 7. Define homozygous

Homozygous describes the occurrence of a singular locus containing two copies of the same variant of an allele either both dominant or both recessive. 8. Define heterozygous

MLS 330 Clinical Immunohematology I Section 1: Fundamentals of Genetics: Blood Bank Applications Assignment 1

Due 23 Jan 2012

Heterozygous describes the occurrence of a singular locus containing one of each in a pair of variant alleles one dominant, and one recessive 9. Define incomplete dominance

Incomplete dominance describes a genetic relationship in which, rather than a dichotomous phenotype (dominant or recessive phenotype), heterozygous alleles express a degree of the recessive trait as well. 10. Define codominance Codiminance occurs when an allele pairing expresses a third trait in the presence of a heterozygous pairing. For instance, a flower may express red (homozygous for red) , white (homozygous for white) or pink (heterozygous for red and white) 11. Briefly describe the following elements of equilibrium frequency; mutation, natural selection, and genetic drift. Mutation: A change in the genetic information in a single individual may lead to a new trait if the gene is carried on through selection. Natural Selection: The shift in phenotype frequency in a population due to the trait in difference leading to longer life, and/ or increased mating. Genetic Drift: A small, generally physically isolated population may show a phenotype drift due to natural selection in the smaller population. May give rise to a deme 12. How is a phenotype frequency established? Blood typing a large, random sample of the same race 13. What is the Hardy Weinberg equation and what are the elements p, q, p 2, q2, and 2pq in terms of the Kell blood group (K and k)? Hardy Weinberg calculates gene frequencies p2 +

2pq + q2 = 1

p= K gene = 0.05 q= k gene = 0.95 p2= frequency of KK = .0025 (.25%) q2= frequency of kk = .9025 (90.25%) 2pq= frequency of Kk = .095 (9.5%)

14. The phenotype frequency of antigen D is 85%. From this value, determine the antigen frequency of d. Also, determine the gene frequencies of DD, Dd, and dd. d^2 = .15 d= .389 D= .611 D^2 = .373 Dd=

MLS 330 Clinical Immunohematology I Section 1: Fundamentals of Genetics: Blood Bank Applications Assignment 1

Due 23 Jan 2012

15. If a patient has Anti-E and Anti-K, how many units will need to be screened to find 4 for crossmatch? E Negative is 70%, K Negative is 91% 16. If a patient has Anti-C and Anti-E, how many units will need to be screened to find 6 for crossmatch? C Positive is 20%, E Negative is 70%. 17. What are the three most common forms of blood group antigens? A,B,H 18. What has been the greatest impact of NAT testing in the Blood Bank? Rapid, sensitive testing for HIV and HCV