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Exam one- basic concepts

by: Rachel Pini

Exam one- basic concepts Bio 355

Marketplace > Grand Valley State University > Biology > Bio 355 > Exam one basic concepts
Rachel Pini

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These are notes for the BASIC CONCEPTS section of exam one.
Human Genetics
Avisa Aleedavood
Study Guide
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This 4 page Study Guide was uploaded by Rachel Pini on Saturday September 24, 2016. The Study Guide belongs to Bio 355 at Grand Valley State University taught by Avisa Aleedavood in Fall 2016. Since its upload, it has received 14 views. For similar materials see Human Genetics in Biology at Grand Valley State University.


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Date Created: 09/24/16
Lecture #1: The Basic Concepts 9-1- 16 I. Sexual Reproduction a. Gonads (sex glands) produce gametes (sex cells) i. Sperm (male’s gamete), testes (male’s gonads) ii. Egg/ova (female’s gamete), ovaries (female’s gonads) b. Ovulation i. Egg cell pulled into fallopian tube c. Fertilization i. Sperm penetrates into surface of egg cell 1. Zygote formed (fertilized egg) a. Moves toward uterus cavity (UC) b. Around day 10, it moves and is implanted into wall of UC ii. Zygote divides and makes 2 cells which then divide into 2 more 1. Called 2-cell and 4-cell embryo 2. Division is called mitosis & the two resulting cells are identical to the parent cell in terms of the sequence of base pairs 3. Another division = 4 cells = still identical to the zygote 4. Continuously divides and follows this pattern 5. Baby: result of mitotic divisions of a single zygote: every cell is identical to the zygote (almost 100%) d. Sexual life cycle in humans i. Ovaries and testes -> meiosis -> produces gametes -> gametes fuse to produce zygote -> zygote divides by mitosis II. Macromolecules a. Nucleic acids i. DNA: double-stranded polymer (large molecule made of many similar building blocks); many monomers (nucleotides) build this polymer ii. Nucleotides: each has 3 subunits -> phosphate group, sugar, nitrogenous base 1. 4 types of nitrogenous bases/nucleotides in DNA a. Thymine b. Cytosine c. Adenine d. Guanine iii. Formation of a polynucleotide strand 1. Phosphate of one nucleotide and OH- of another iv. Combining strands 1. Link together by hydrogen bonds 2. Two strands are in front of each other 3. T makes to bonds to A & C makes 3 bonds to G 4. Rope ladder structure that is produced from this = DNA molecule (2 DNA strands) a. Handrails of this ladder are sugars and phosphates b. Rungs of the ladder are nitrogenous bases b. DNA to chromosome i. Chromosome is made of DNA and proteins 1. Only DNA portion has genetic info; usually the terms DNA and chromosome are used interchangeably 2. Only DNA molecule folded = one chromosome 3. For now, remember each chromosome made of one DNA molecule 4. 2 strands called “opposite strands” 5. A&T are complementary bases as are C&G ii. Humans have 46 DNA molecules/chromosomes (chromosome # in humans in 46) 1. Size varies depending on size of DNA molecule c. The Genome i. Defined as the entire genetic material found in a cell including DNA in mitochondria (46 DNA molecules in nucleus and all of the DNA in the mitochondria = sum of nuclear and extranuclear DNA) d. Genes i. Within each DNA molecule (sets of base pairs) we have genes 1. Genes: segment of DNA (size varies) or sequences of base pairs a. Info in form of a code is stored then deciphered for generation of a product (protein) : Gene -> protein -> traits b. Located at intervals: have DNA between them with no genes (no code) ii. Most of genome = non-gene areas: less than 2% encodes human information 1. Is no border or specific length of gene vs. non-gene parts iii. Chromosomal location of every gene = locus 1. Chromosomal location of every gene is the same in all cells of an individual and in all individuals of that species e. Body Cells i. Somatic vs germ cells 1. Germ cells: exclusively present in gonads (ovaries, testes); parental cells of gametes a. Programmed to undergo meiosis and produce gametes (sperm, egg) 2. Somatic cells: all other cells of other types/functions a. Undergo mitosis -> produce somatic cells 3. Both germ cells and somatic cells have the same amount of genetic material f. Diploid Chromosome Number i. Defined as characteristic number of chromosomes 1. Chromosomes come in pairs: each 2 of the pair are the same in size, shape, the type of trait that they encode a. Scattered- the pairs aren’t always next to each other b. 23 pairs of cs (*cs = chromosome) i. 22/23 pairs are called autosomal cs (named by #; #1, #2, #3, etc.); largest pair being cs-1 ii. last pair is called sex pair; made of 2 sex cs -> traits of sexual characteristics (male vs female) are located here c. “notches” are the same in each pair -> notch called centromere -> different placement in different pairs due to the proteins d. sex pair in females: XX ; sex pair in males: XY i. females have 23 pairs because XX is a pair; males have 22 actual pairs 1. males have all 24 types of chromosomes while females do not (because males have Y) ii. Chromosome Type 1. Diploid cells: two of every type (2 cs-1, 2 cs-2) 2. Haploid cells: one of each type (including sex chromosome), n 3. Chromosome set: one out of each type; 22 autosomal and one sex cs denoted by n 4. In humans, gametes are the only haploid cells (23 cs/gamete) a. Germ cells are NOT haploid; they undergo meiosis to produce haploid cells and somatic cells undergo mitosis to make more diploid cells b. ½ sperm cells have X cs and the other ½ have Y cs (23, X or 23, Y) i. denoted x-bearing sperm or y-bearing sperm c. All of female’s egg cells have 23, X g. Fertilization i. n+n=2n (23+23=46) -> cs number is restored ii. after fertilization, male copy of one + female copy of one 1. in zygote, becomes a cs pair (cs-1) a. paternal cs-1 and maternal cs-1 2. baby becomes 46,XY or 46,XX (50% chance for second to be X or Y) a. called the karyotype (46, X(X,Y)) i. another definition for karyotype is putting cs in pairs and studying them b. In a female (XX), it is unsure which X is paternal and which X is maternal h. Homologous Pairs i. If two copies of a cs pair are same in size, shape, types of genes, then that cs pair is called homologous 1. Sex pair is homologous in females but no in males a. 22 homologous pairs in males, 23 in females 2. same type of genes at same loci on homologous cs i. Genes and alleles i. Genes come in various versions called alleles 1. Random genetic mutation changed one base pair and yielded blue eyes (by chance), another mutation -> green eyes a. Each person has max of 2 alleles per gene (inherited from parents) b. Some genes have more than 2 alleles, but we can only carry 2 of them i. Blood type (A, B, O) is an example 2. 2 members of homologous pair in humans have same genes at same location, but may have same or different alleles on those genes ii. genotype of person for that gene is the combination of pat/mat alleles; dad has attached earlobes (e) and mom has free earlobes (E) -> genotype of Ee iii. haploid gametes have only one allele of each gene 1. during fertilization -> each allele of a gene pair is passed from one parent to offspring -> two members of each gene pair are called paternal and maternal alleles


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