Module 01 Lab Worksheet: General Review INTRODUCTION This week’s lab will focus on reviewing the concepts of anatomical terminology, metric conversion and genetics, specifically the concept of dominant and recessive alleles in a human pedigree. OBJECTIVES Objectives for this week’s lab include: 1) Review anatomical terminology, 2) Demonstrate metric conversion knowledge, and 3) Review the concepts of genetic inheritance and demonstrate knowledge of the inheritance patterns of dominant and recessive alleles through a human pedigree analysis. OVERVIEW Understanding and proper use of anatomical terminology is necessary within the health sciences field and will be vital for the various dissections that will be performed in future labs.Specifically, the terms: anterior (rostral), posterior (caudal), lateral, medial, superior (dorsal), inferior (ventral), distal, proximal, superficial and deep. If you are unfamiliar with any of these terms, please review them prior to the lab. The majority of the world and all of the scientific community (including all disciplines health care) utilize the metric system. Having a standardized unit of measurement across systems, professional fields and countries with the ease of converting units is not only necessary, it’s vital. By now, you should have been exposed to the metric system and these concepts will be reviewed within this lab. If unfamiliar with some concepts of the metric system, please review them prior to lab. The process of genetic inheritance can be complex and confusing to most but having a solid understanding will further help your ability to comprehend genetic disorders, predispositions to certain diseases/conditions and how traits are passed from one generation to the next. By now, you should have been exposed to the concept of Punnett squares in “predicting” the likelihood a particular trait will be passed to offspring. This lab will examine the mapping of a human pedigree in determining the phenotype and genotype of an individual. Human cells have 46 chromosomes; 22 pairs of identical chromosomes and a set of sex chromosomes. You have a chromosomal set from your mother (23 chromosomes; from the egg) and a chromosomal set from your father (23 chromosomes; from the sperm). Ultimately, you have 22 pairs of homologous (identical) chromosomes; this means you have two copies of these genes (1 from your mother, 1 from your father). These copies are called alleles and can be either Dominant or Recessive. For simplicity reasons (not necessary true), let’s say on chromosome 8 there is a gene (called gene “webbed toe”) that will determine if you have webbed toes or not. You have two copies of the gene “webbed toe”; because you have 2 homologous copies of chromosome 8 (1 from your mother, 1 from your father). These two copies are not exactly identical; they have slight DNA sequence variations within each gene. These variations are called alleles and can be in the form of a Dominant allele (in this case represented by “W”) or Recessive allele (in this case represented by “w”). The set of alleles an individual has is referred to as their genotype and is determined by which allele you receive from each parent. Your genotype can either be: WW, Ww or ww. Anytime a Dominant allele is present (WW or Ww), its phenotype (physical characteristic) is expressed; in this case- no webbed toes. The only time the Recessive allele phenotype (physical characteristic) is expressed is when the Dominant allele is absent, (ww); in this case- webbed toes. If an individual is Ww; sometimes that individual is referred to as a “carrier” of the recessive allele. He/she doesn’t physically express the recessive allele trait but can pass the allele to an offspring. MATERIALS · Content from Module 01 PRE-LAB EVALUATION QUESTIONS The pre-lab evaluation questions must be answered prior to lab and demonstrated to your lab instructor. You must read through the assigned chapter readings, lab introduction, objectives, overview and procedure to answer these questions. Please cite your work for any reference source you utilize in answering these questions. 1. In your own words, explain the difference between the terms distal and proximal along with the terms ventral and dorsal. 2. What are the units of measure in the metric system and why is learning and understanding the conversions so important within your field of study? 3. In your own words, define the terms: alleles, heterozygous, homozygous, genotype and phenotype. 4. What is meant by the phrase, “carrier of a trait” and what is the significance of it? 5. In your own words, what is the difference between an autosomal dominant disease and an autosomal recessive disease? Part 01 Procedure: Anatomical Terminology 1. Utilizing your course book, review the following anatomical terminology with your lab partners and answer the following questions: Anterior (ventral),posterior (dorsal), lateral, medial, superior, inferior, distal, proximal, superficial and deep.  A) Write two sentences demonstrating proper use and knowledge of the terms: distal and medial. B) Write two sentences demonstrating proper use and knowledge of the terms: superficial and deep. C) Write two sentences demonstrating proper use and knowledge of the terms: lateral and medial. D) Write two sentences demonstrating proper use and knowledge of the terms: superior and inferior. Part 02 Procedure: Metric Conversions 1. Please complete the following conversions: A) 4.5 liters to milliliters: _______ B) 7.098 kg to mg: _______ C) 0.856 mm to cm: _______ D) 135.46 cg to kg: _______ E) 6.55 ml to l: _______ 2. You have 1g of Drug X and a patient needs to receive 25mg twice a day. How many days will 1g of Drug X last?  3. A patient is to receive 1500mg of Drug B but all that you have within inventory is 1.0g tablets. Is this a problem? Why or why not?  4. A patient is to receive 3.5g of Drug M but only comes in 50cg tablets. Is this a problem? Why or why not? Part 03 Procedure: Common Traits, Phenotypes, Genotypes 1. Take part in an observational study of your and your lab partners’ phenotypes and genotypes of common traits. Remember, if you have one dominant allele among your genotype, you will express the dominant phenotype. To express the recessive allele’s phenotype, you must have a double recessive allele genotype for that specific trait.  2. Utilizing “Appendix A”, map out your phenotype for a few common traits. After you map your phenotype, please map out your genotype for each trait. If you express the dominant phenotype and don’t know the second allele, then utilize a question mark; for example, “W?” Trait Phenotype Genotype Roll Tongue Fold Tongue Earlobes Hair Growth Widow’s Peak Part 03 Procedure: Human Pedigree Analysis 1. Utilizing the worksheet labeled “Appendix B”, complete the three human pedigree analyses and answer the questions referring to genotype of specific individuals in the human pedigree. You will utilize your work to answer various post lab questions. POST-LAB EVALUATION QUESTIONS The post lab evaluation questions must be completed prior to your submission of the lab. Answers for these questions will be derived from the lab protocol, the weekly concepts associated with the lab and possibly research content from the book and/or online resources. Please cite your work for any reference source you utilize in answering these questions.  1. Answer the following questions regarding your work on the Human Pedigree Analysis- Type A: a. What type of disease is being demonstrated: Autosomal Dominant or Autosomal Recessive? How did you determine this? b. What are the genotypes of the following individuals? i. A) ii. B) iii. C) iv. D) 2. Answer the following questions regarding your work on the Human Pedigree Analysis- Type B: a. What type of disease is being demonstrated: Autosomal Dominant or Autosomal Recessive? How did you determine this? b. What are the genotypes of the following individuals? i. A) ii. B) iii. C) iv. D) v. E) 3. Answer the following questions regarding your work on the Human Pedigree Analysis- Type C: a. What type of disease is being demonstrated: Autosomal Dominant or Autosomal Recessive? How did you determine this? b. What are the genotypes of the following individuals? i. A) ii. B) iii. C) iv. D) v. E) vi. F) vii. G) 4. Explain how a certain trait or disease/condition phenotype can skip a generation? 5. In your own words explain the job of a genetic counselor and the role this profession has in the health care field.  Appendix A Common Traits A) Ability to roll your tongue a. A dominant allele (R) gives individuals the ability to roll their tongues into a “U” shape when extended. b. Individuals with recessive alleles (rr) cannot roll their tongues c. Phenotype: B) Ability to fold your tongue backwards a. A dominant allele (T) gives individuals the ability to fold their tongues backward (or over) without using their teeth. b. Individuals with recessive alleles (tt) cannot fold their tongues. c. Phenotype: C) Free or attached earlobes a. A dominant allele (L) gives individuals free earlobes. b. Individuals with recessive alleles (ll) gives individuals with earlobes attached directly to the head. c. Phenotype: D) Hair growth on middle joints of fingers a. A dominant allele (H) will give individuals hair growth on their middle joints of their fingers. b. Individuals with recessive alleles (hh) will have no hair growth on their middle fingers. c. Phenotype: E) Widow’s peak a. A dominant allele (W) will give individuals a widow’s peak or a downward point in the middle of the forehead. b. Individuals with recessive alleles (ww) will give individuals a smooth hairline. c. Phenotype: Go back to the lab protocol and map out your genotype to your best ability. Remember, if you have the recessive phenotype for any of these traits, your genotype will be double recessive alleles, “rr”. If you have the dominant phenotype for any of these traits, you may have either a “DD” (dominant-dominant) or “Dr” (dominant-recessive) genotype. One easy way to determine if your genotype is “DD” or “Dr” is by checking with your parents. If one of your parents has the recessive phenotype, then he/she will have a “rr” genotype. Suppose you expressed the dominant phenotype, you know that your genotype is either “Dr” or “DD”. If one your parents express the recessive phenotype, then you know your genotype is “Dr”. It’s like a puzzle and the human pedigree analysis is the next step : ) Appendix B Human Pedigree Analysis A human pedigree analysis is where an investigator traces the history of a specific phenotype through the history of a family and maps/draws out a family tree (otherwise known as a pedigree) of the individuals with that particular phenotype. The pedigree gives the investigator with the ability to map out the genotypes of each family member. An example of a human pedigree and the key for the symbols are as following: .gif”> To be able to complete this section of the lab, you must understand the terms autosomal dominant disorder/disease and autosomal recessive disorder/disease. Human Pedigree Analysis: Type A(dominant: P; recessive: p) .gif”> What are the genotypes for the follow individuals? A) B) C) D) Human Pedigree Analysis: Type B(dominant: M; recessive: m) .gif”> What are the genotypes for the follow individuals? A) B) C) D) E) Human Pedigree Analysis: Type C(dominant: H; recessive: h) .gif”> What are the genotypes for the follow individuals? A) B) C) D) E) F) G)