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BMS. test 2
| Question | Answer |
|---|---|
| During the process of Mitosis, the chromosomes are called? | Sister chromatids or duplicated chromosomes |
| During the process of Meiosis I, the chromosomes are called? | Homologous pairs |
| During the process of Meiosis II, the chromosomes are called? | Duplicated nonidentical chromosomes |
| What are genes and how many do humans have? | Chemical instructions for building protiens and humans have 21,500 |
| What is a locus? | Specific location on a chromosome (think address) |
| What is an Allele? | Each version of a gene |
| The P arm has a _____ number of chromosomes, while the Q arm has a _____ number. | Smaller, larger |
| Homozygous dominant | AA |
| Homozygous recessive | aa |
| Heterozygous | Aa |
| What is a gamete? | Haploid (one letter) |
| Monohybrid cross | A way to learn more about genotypes or determine probability |
| Law of segregation | Seperation of pairs of alleles |
| Probability | The measure of the chance that some particular outcome will occur |
| Cross CC x cc and the offspring will be? | All heterozygous |
| Cross Cc x Cc and the offspring will be? | 1/4 CC, 1/2 Cc, and 1/4 cc 9:3:3:1 |
| Chance has no ____ ? | Memory |
| Law of Independent Assortment | Occurs in meiosis (prophase I and prophase II) Chromosomes and their genes move randomly into gametes |
| Testcross | To learn a genotype of a nonhuman |
| When crossing a nonhuman organism with a homolygous recessive organism | If all offspring are Aa, parent was probably AA. If some offspring had the dominant trait and some have the recessive trait the parent was Aa |
| Codominance | Heterozygous for a trait, but both alleles are expressed. (example blood type AB) |
| Incomplete dominance | There is an intermediate between 2 traits. (example curly x straight, intermediate wavy) |
| Multiple allele system | A gene has three or more alleles |
| Pleiotropy | Wide-ranging effect of one gene |
| Sickle-cell anemia | One amino acid substitution in hemoglobin. Pleiotropic effects |
| Penetrance | The probability that someone who inherits an allele will have the phenotype associated with it |
| Cystic fibrosis | Homozygous recessive 100% penetrant, faulty CFTR gene, autosomal recessive disorder |
| Polydoctyly | Dominent allele for extra digits, incompletely dominant |
| Polygenic traits | Combined expression of several genes (example skin and eye color) |
| Continuous variation | Populations show a range of continuous differences |
| Multifactorial trait | Phenotypes shaped by more than one gene and affected by the environment (height) |
| Genotype | Two letters |
| Dihybrid cross for heterozygous ratio | 9:3:3:1 |
| The phenotypes for blood | Type A, Type B, Type AB, Type O |
| The genotypes for type A blood | AA, Ao |
| The genotypes for type B blood | BB, Bo |
| The genotypes for type AB blood | AB (codominance) |
| The genotypes for type O blood | oo (recessive) |
| Reproduction | Parent cell produces new cells |
| Mitosis | The division of somatic/body cells. |
| Meiosis | The division of germ cells. |
| What are the two types of germ cells in meiosis? | Oogonia in ovaries and spermatogonia in testes. |
| Effect of mitosis | Two diploid daughter cells |
| Effect of meiosis | Four haploid daughter cells |
| Chromatin | Threadlike DNA + protien (starts out as) |
| Chromosome | Coiled DNA + protien |
| Chromatid | Condensed DNA + protien |
| Sister Chromatid | Duplicated chromosome |
| Centromere | Holds together chromosomes |
| Centrosome | Microtubule organizing centers |
| Centriole | Microtubles being organized (centrioles are in centrosomes) |
| Homologous chromosomes | Chromosomes which look alike and carry genes for the same traits, roughly the same size |
| Pairs of chromosomes are called? | homologous pairs |
| What is blood made of? | Plasma, red blood cells, white blood cells, and platelets |
| Histones | protiens |
| Where do you obtain karyotypes? | In the white blood cells in blood, because they have a nucleus |
| Aster | Array of microtubules |
| Mitosis | Division of body / somatic cells, results in identical copies or two diploid daughter cells |
| Diploid | Full number of chromosomes, 2n = 46 in humans |
| Meiosis | Division of sex / germ cells to create gametes (sperm and eggs) |
| Haploid | Half number of chromosomes |
| Cell cycle | 1. Interphase 2. Mitosis 3. Cytokinesis 4. Meiosis I 5. Cytokinesis 6. Meiosis II |
| Interphase | G1, S, G2, is the replication of DNA and last 20 hours |
| Prophase (mitosis) | Nuclear envelope fragments, nucleolus disappears, chromatin turn to chromosomes |
| Metaphase (mitosis) | Sister chromatids align at the equator, spindle fibers attach to centromeres |
| Anaphase (mitosis) | Sister chromatids seperate and move to opposite poles, cleavage furrow starts to develop |
| Telophase (mitosis) | Nuclear envelope reappears, nucleolus reappears, sister chromosomes turn to chromatin, and results in two diploid daughter cells |
| Prophase I | Pairing of homologous chromosomes, synapsis or "crossing over" to exchange information |
| Metaphase I | Homologous pairs align at the equator, spindle fibers attach to centromeres |
| Anaphase I | Homologous pairs seperate and move to opposite poles, the cleavage furrow starts to develop |
| Telophase I | Similar to telophase in mitosis, except homologous pairs and result is 2 haploid daughter cells |
| Prophase II | Similar to prophase in mitosis |
| Metaphase II | Duplicated nonidentical chromosomes align at equator, spindle fibers attach to centromeres |
| Anaphase II | Duplicated nonidentical chromosomes seperate and move toward opposite poles, cleavage furrow starts to develop |
| Telophase II | Same as telophase in meiosis I, but results in 4 haploid daughter cells |
| When is the only time we have any chromosome duplication? | Prior to mitosis and prior to meiosis I only |
| To the know the number chromosomes, we count what? | centromeres |
| Spermatogenesis | 1. one spermatocyte 2. two spermatocytes 3. four haploid spermatids 4. four haploid sperm (once spermatids develop flagella) |
| Oogenesis | 1. oocyte 2. oocyte 3. 1 haploid egg and two to three polar bodies |
| For karyotyping we stop process in what phase? | metaphase |
| If there are 40 spermatocytes in a parent cell, how many sperm will there be at the end spermatogenesis? | 180 sperm at the end |
| If there are 40 oocytes in a parent cell, how many ova will there be at the end of oogenesis? | 40 ova at the end |
| If a parent cell is 2n = 46 then what will the daughter cells be at the end of mitosis? | 2 diploid daughter cells 2n = 46 |
| If a parent cell is 2n = 46 then what will the result of meiosis be? | 4 haploid daughter cells n = 23 |
| Number of chromosomes in humans | 46 chromosomes |
| Number of pairs in nucleus | 23 pairs |
| Autosomes | 22 pairs of chromosomes that control traits that are unrelated to gender |
| Sex chromosomes | 1 pair that contain genes to control gender |
| Cell cycle | lifetime of somatic cell, varies depending on cell type |
| Cytokinesis | Division of cytoplasm that begins toward the end of anaphase |
| Reductional division | Reduces the number of chromosomes to a haploid number (n), occurs in spermatogonia or oogonia |
| Chromosome number for mitosis and meiosis | mitosis is same as the start, meiosis is doubled |
| Spermatid | Immature sperm (just head, becomes mature when develops flagela |
| At the time of birth females eggs are? | Suspended in prophase I |
| Ovulation | Release of an egg each month |
| Where does the egg stay in females? | Stays in metaphase II unless fertilized |
| Crossing over only happens in | Prophase I for homologous pairs |
| Genetic recombination | Genes have different chemical forms so variations can be passed on to offspring |
| If there are 20 spermatocytes at the beginning of spermatogenesis how many sperm will there be? | 80 sperm at the end |
| If there are 20 oocytes at the beginning of oogenesis, how many ova will there be? | 20 ova at the end |
| Disjunction | When homologous pairs seperate during anaphase I and go to opposite poles |
| Nondisjuction happens most in what stage | Anaphase of mitosis |
| DNA replication occurs during what stage | S of interphase |
| A carrier cannot be found in what disorder type | Autosomal dominant disorders |
| On a pedigree chart, a person who has the disease looks like | A circle or square shaded in |
| Barr Body | Female condensed inactivated X chromosome |
| Patterned baldness is an example of this because it effects more males, but it's gene is located on an autosomal recessive chromosome | Sex - influenced trait |
| The growth of a man's beard is governed by | Sex - limited genes |
| If a daughter cell had a x - linked recessive disorder, she inherited the disease gene(s) from | Both parents |
| During cell division one cell becomes 3N, this is an example of | Polyploidy |
| Cri-du-chats in which children develop a misshapen larynx is an example of this type of chromosomal abnormality | Deletion |
| Traits that involve more than one set of traits | Polygenic |
| The visual representation of the total number , shape, and size of each chromosomes in the cell is the | Karyotype |
| Testicular feminizing syndrome | The X-linked recessive disorder in which the individual had the normal number of sex chromosomes (XY) but developes into a female due to the mutation of a male hormone receptor that is located on the X chromosome. |
| Sickle - cell anemia is an example of what | A pleiotropic trait |
| Phenylketonuria | is the build up of phenylalanine that can cause mental impairment |
| Phenylketonuria is an example of what kind of disorder | Autosomal recessive |
| What is colchicine? | It blocks the process of mitosis to freeze in metaphase for karyotyping |
| Trisomy of chromosome 21 | Down syndrome |
| Zygote | The fusion of two haploid gametes |
| Process called cell reduction division | Meiosis |
| What chromosomal abnormality cannot be seen by karyotyping | Inversion |
| A woman colorblind x normal vison man, probabilty of offspring | 100% of being colorblind, X - linked trait |
| Huntington's | An autosomal dominant neurological disorder, progressive degeneration, fatal |
| Dis-junction | When one or more chromosomes fail to seperate during cell division and occurs more frequently with age |
| Sex - linked traits or normally passed by | Mother to son |
| Trisomy disorders include | Down Syndrome, Jacob's Syndrome, and Klienfelter's Syndrome |
| If two genes are always found on the same gamete (linked) | They are located on the same chromosome |
| Turner syndrome | Ovum fertilyzed that does not contain any sex chromosomes |
| Achondroplasia | Autosomal disorder that causes individuals to have short stature due to improper development of the cartilage and bone, no cure |
| Linkage | Traits that are inherited together |
| X chromosomes | 2,000, no sex determination, x - linked |
| Y chromosomes | 300, sex determination SRY gene y - linked (fatal for disorders) |
| PGD | Preimplantation genetic diagnosis, Invitro fertilization screening embryos for disease |
| Karyotyping stages | 1. Obtain from extracting white blood cells 2. Inject cells with colchicine to pause mitosis in metaphase 3. Take pictures |
| Humans are carriers of how many lethal genes? | 3 - 8 lethal genes, related to miscarriage |
| Genetic abnormality | Deviation from average that doesn't necessarily cause health problems |
| If parents are heterozygous for a cystic fibrosis, what is the chance the children will have it? | 25% |
| If the parents are homozygous for cystic fibrosis, what is the chance the children will have it? | 100% |
| Affected genotypes for autosomal recessive | Have homozygous recessive genotypes |
| Normal genotypes for autosomal recessive | Have homozygous dominant genotypes |
| Carrier genotypes for autosomal recessive | Are heterozygous |
| Autosomal recessive disorders | Cystic fibrosis, phenylketonuria, and tay - sachss disease, men and women are equally effected |
| Tay - Sachs disease | Lack of enzyme that breaks down lipids in the brain, there is no treatment, severly under developed motor skills |
| Normal genotype for autosomal dominant disorders | Homozygous recessive |
| Carrier genotype for autosomal dominant disorders | There are no carriers |
| Affected genotype for autosomal dominant disorders | Homozygous dominant or heterozygous are affected |
| For autosomal dominant disorders, the offspring of a heterozygous parent x normal homozygous recessive parent? | 50% likely to be heterozygous |
| Autosomal dominant disorders | Huntington's disease, Marfan syndrome, and Achondroplasia |
| Marfan Syndrome | The wall of the aorta erupts, always discovered in autopsy |
| Normal X - linked recessive | X^BX^B, X^BY |
| Carrier X - linked recessive | X^BX^b |
| Affected X - linked recessive | X^bX^b, X^bY |
| X - linked recessive | Many more males then females are affected, daughters recieve affected allele from an affected father, Hemophilia A andB, Duchenne muscular dystrophy, and color blindness |
| Hemophilia | A is most common form, mutation in the gene for the clotting protein |
| Duchenne muscular dystrophy | Mutation in the gene that encodes the protein dystrophin, fatal |
| Red/Green color blindness | Mutation in the gene that encodes for the protein opsin |
| Pharmacogenetics | Identify genes that control common reactions to various drugs |
| Gene Mutation | Change in one or more of the nucleotides that make up a gene |
| Deletion | Perminent loss of genetic material, Cri-du-chat |
| Duplications | Gene sequences are repeated |
| Translocation | Part of one chromosome exchanges places with corresponding part of nonhomologous chromosome |
| Aneuploidy | Embryo does not have an exact multiple of 23 chromosomes |
| Polyploidy | Embryo has three, four, or more sets of 23 chromosomes |
| Nondisjunction | One or more pairs of chromosomes fails to seperate during cell division, if fertilized trisomy or monosomy |
| Turner Syndrome | Missing X chromosome; Xo, female 98% fatal |
| XXX females (poly - x) | Two barr bodies evident, develop normally |
| Klinefelter syndrome | "pretty boy syndrome" XXY, male |
| XYY Jacob's syndrome | Male, develop normally |
Created by:
hmh1124
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