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102 Cards in this Set
- Front
- Back
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Osmotic Pressure
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Osmotic pressure is the amount of pressure required to offset the net movement of water
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Reverse Osmosis
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Application of pressure to force water through a membrane is the principle of reverse osmosis
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Microfilaments
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- Thinnest
- Mostly near periphery - Composed of actin - Generate movement - Anchor cytoskeleton to the plasma membrane - Mechanical support for microvilli |
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Intermediate filaments
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- Intermediate in size
- Throughout the cell - Very strong - Can be made of several different proteins - Provide reinforcement against mechanical stress - Stabilize the position of organelles and nucleus |
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Microtubules
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- Largest component
- Are long, unbranched hollow tubes - Composed of tubulin - Assembly of microtubules begins in the centrosome - Help determine cell shape - Involved in the movement of organelles - Facilitate cell division - Participate in movements of cilia and flagella |
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Autosome
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An ordinary chromosome; one that does not determine the sex of an individual
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Homologous chromosomes
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Chromosomes of the same kind. Attributes of homologous chromosomes is that they:
- Have the same linear sequence of genes - Look alike - Pair during meiosis |
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Telomeres
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The natural unipolar chromosome ends in eukaryotes, they can not normally be transposed to intercalary positions in the chromosomes; absence usually impairs normal chromosome behavior
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Linkage group
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A group of gene loci that can be placed in linear order, and which tend to be inherited together, showing different intensities of partial linkage. A chromosome is a linkage group; an arm of a chromosome is also a linkage group wherein the degree of linkages are somewhat stronger than for the chromosome as a whole.
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Chromatin
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- Collectively, all of the chromosomes together in a dispersed form comprise chromatin
- Heterochromatin: inactive form, condensed - Euchromatin: active form, invisible under light microscopy (replicating, transcribing RNA as part of the process of protein manufacture) |
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Genetic polymorphism
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The regular and simultaneous occurrence in the same population of two or more discontinuous variants or genotypes in frequencies which can not be accounted for by recurrent mutation; essentially, the term means that a population has different alleles for the same gene
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De novo mutation
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- A new mutation that was not inherited from either parent
- Usually autosomal dominant. i.e. dwarfism |
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Hemizygous
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Genes that are present only once in the genotype, and not in the form of pairs of alleles. This occurs in haploids, differential segments of sex chromosomes, diploids as a result of aneuploidy or loss of chromosome segments
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Incomplete dominance
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Neither member of a pair of alleles is dominant over the other, and the heterozygote has a phenotype intermediate between the homozygous dominant and homozygous recessive phenotypes. Sickle-cell disease (SCD) is an example of incomplete dominance
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Codominant, codominance
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The heterozygous form expresses both gene products (i.e. both are manifest phenotypically). In the ABO blood group system the I^a I^b genotype produces the blood group AB
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Autosomal dominant
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Affected individuals have one normal allele and one abnormal allele. Examples include brachydactyly, Huntington disease, Acondroplasia, Polycystic kidney disease, marfan syndrome, familial hypercholesterolmia
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Autosomal recessive
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Recessaive conditions are exhibited only when an individual has two copies of the allele. Examples include Phenylketonuria, Albinism, sickle cell anemia, cystic fibrosis, tay-sachs, hemochromatosis
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Aneuploidy
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Abnormal amount of chromosome. Extra or missing chromosome
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Hardy-Weinberg equilibrium
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A mathematical statement concerning the theoretical relationship between gene frequencies and genotype frequencies within a population. For our purposes Hardy-Weinberg means that in ordinary populations, the frequency of alleles for a given gene will remain the same from one generation to the next.
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Genetic drift (allelic drift)
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Any change in the gene frequency in a population over time due to chance events in small populations. In such populations alleles can change frequency, even becoming fixed or lost, due to chance. It is distinct from natural selection in which alleles change frequency due to non-random factors involving reproductive or survival success.
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Founder effect
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The establishment of new population by single or a few individuals. The limited number of founders can give rise to a large genetic drift effect.
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Ellis-van Creveld syndrome
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-(AKA EVC, chondroectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type involving numerous anomalies
- Often is the result of founder effects in isolated human populations, such as the Old Order Amish community |
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Ashkenazi Jew
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Can trace their ancestry back to a small number of founders. Some genetic diseases are more common in Ashkenazi Jews due to founder effects: Type 1 Gaucher disease, Tay-Sachs, Breast & Ovarian cancer
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Gaucher disease
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Most common lysosomal storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase leading to accumulation of its subrate, the fatty substance glucocerebroside in the spleen, liver, kidneys, lungs, brain, and bone marrow.
- Autosomal recessive |
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Tay-Sachs disease
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causes harmful to fatal quantities of the fatty acid derivative ganglioside to accumulate in nerve cells of the brain. it is caused by a mutation of the HEXA gene on chromosome 15, and is inherited in an autosomal recessive fashion
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Non-Mendelian inheritance
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Any pattern of inheritance not described by Mendel, more specifically in which traits do not segregate in accordance with Mendel's laws: Extranuclear inheritance, genomic imprinting, mosaicism, trinucleotide repeat disorder, gene conversion
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Extranuclear inheritance
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-AKA cytoplasmic inheritance
-Involves genes that occur outside the nucleus, as in mitochondria, chloroplasts, and cellular parasite likes viruses or bacteria -Many mitochondrial diseases of humans affect muscles and the eye |
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Genomic imprinting
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Certain genes are expressed in a manner involving their parent of origin. Gene expression occurs from only one allele. In some instances imprinted genes are expressed only from the allele inherited from the mother. In other instances they are expressed from the allele inherited from the father.
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Mosaicism
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-Mosaicism are individuals who have cells with differing genetic makeup
-Differences can result from mutations in different tissues and at different periods of development |
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X-inactivation
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- Regular occurring form of mosaicism results from a phenomenon known as X-inactivation
- Female mammals have 2 X chromosomes, one of which is inactivated during early development, which serves to prevent lethal gene dosage problems - The particular chromosome that is inactivated, maternal or paternal, is random in placental mammals. - Because the 2 X chromosomes will almost certainly differ in the alleles they contain, this will result in differing cell phenotypes depending on which chromsome is inactivated |
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Barr body
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- Condensed heterochromatic, single X chromosome resulting from X-inactivation in the nucleus of a non-dividing somatic cell.
- Named after the discoverer, Murray Barr |
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Simple Squamous Epithelium
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Locations: endothelium, bowman's capsule(kidney), thin segment of the loop of Henle(kidney), alveoli
Functions: Transport, Diffusion |
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Simple Cuboidal Epithelium
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Locations: tubules(kidney), covering ovary, ducts
Functions: secretion, transport, absorption |
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Simple Columnar Epithelium
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Locations: lining GI tract, lining uterus, lining oviduct
Functions: protection, lubrication, absorption, secretion |
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Pseudostratified Columnar Epithelium
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Locations: respiratory tract
Functions: protection, secretion |
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Non-keratinized Stratified Squamous Epithelium
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Locations: mouth, esophagus, vagina
Function: protection from abrasion |
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Keratinized stratified squamous
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Locations: skin,gingiva, hard palate
Functions: Abrasion, desiccation, UV |
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Stratified cuboidal epithelium
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Ducts of adult sweat glands, esophageal glands
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Stratified columnar epithelium
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Only the apical layer has columnar cells, lines part of the urethra, esophageal glands, part of conjunctiva of the eye
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Transitional Epithelium
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Locations: Urinary System
Function: Structure permits stretching |
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Loose Connective Tissue
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Locations: deep to skin, deep to mesothelial lining of the internal cavities, around blood vessels, surrounds glandular parenchyma
Types: areolar connective tissue, adipose tissue, reticular connective tissue |
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Loose Connective Tissue Attributes
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Loose connective tissue is characterized by abundance of ground substance and ECF
Cells: Fibroblasts, fat cells, macrophages, mast cells, undifferentiated cells Fibers: loosely woven collagen fibers, lacey reticular fibers, some loosely scatter elastic fibers |
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Nucleus
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"The information repository of the cell"
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Nucleolus
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"Blob of ribosomal RNA"
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Rough Endoplasmic Reticulum
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- Studded with ribosomes
- Synthesizes secretory proteins - "Cell's membrane factory" |
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Smooth Endoplasmic Reticulum
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- No ribosomes
- Synthesizes fats, phosopholipids, steroids - Has enzymes responsible for detoxification |
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Golgi Apparatus
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- "Packaging and export mechanism for the cell"
- cis to trans |
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Centrosome
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- paired, perpendicular cylinders, each cylinder composed of 9 microtubules
- Function: assembly of microtubules - Alias: Microtublule Organizing Center |
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Cilia
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- Core of 20 microtubules
- Anchored by a basal body - Coordinated movement of gruops of cilia propel extracellular fluids |
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Centromere
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The region or regions of a chromosome with which the spindle fibers become associated during mitosis and meiosis.
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Law of segregation
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When an individual produces gametes, the copies of a gene separate, so that each gamete receives only one copy.
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Law of independent assortment
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The copies of different genes assort independently of one another during gamete formation.
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Phenylketonuria
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- PKU is a hereditary disease cause by the lack of liver enzyme phenylalanine hydroxylase (PAH)
- PKU is an autosomal recessive trait located on chromosome 12 - 1 of every 17,000 births have PKU |
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Albinism
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- Cogenital hypopigmentation disorder characterized by a lack of melanin
- Inherited autosomal recessive - abnormal development of nerve pathways from the eye to the brain |
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Ocular albinism
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- Least common form
- 5 different types - Affects only eyes |
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Hemoglobin genetics
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- Protein made of 4 subunits. 2 a and 2 b
- Polymorphic and have HbA, HbC, HbS - Heterozygous or homozygous presence of HbC or HbS results in hemoglobinopathy - Persons who are homozygous for HbS have sickle cell anemia; heterozygous HbAS persons have sickle cell trait - Hemoglobin electrophoresis is used to determine hemoglobin type. Can differentiate between: A, S, C, D, etc... |
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Cystic fibrosis
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- mucovoidosis, or mucovisciosis is a hereditary disease affecting the mucus glands of the lungs, liver pancreas, and intestines, causing progressive disability due to multisystem failure
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Sex linkage
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- Sex linkage is synonymous with X linkage because not many chromosomes on Y chromosome. 1st sex linked trait was associated with the X chromosome
- Y linkage is also called holandric inheritance - Since the Y chromosome is small, only a few traits are Y linked - Y linked means passed from father to son only |
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X linked dominant traits
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- All daughters of an affected male with be affected, but none of the sons
- Half the children of an affected female will be affected, regardless of sex - Twice as many females are affected as males - Some examples are retinitis pigmentosa, chondrodryplasia punctata, hypophosphatemic rickets |
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X linked recessive traits
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- hemizygous males are affected, but only homozygous females are affected
- Affected males will transmit the gene only to daughters - Affected males in a pedigree are related to each other through nonaffected females (i.e. grandfather(affected)-mother-son(affected)) - Some examples are: Hemophilia A, Color blindness, Duchenne muscular dystrophy, X-linked sever combined immune disorder (SCID), Some forms of congential deafness |
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Hemophilia
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- Group of blood coagulation disorders
- Classic hemophilia, AKA hemophilia A, dificiency of factor 8 - Christmas disease, AKA hemophilia B, deficiency of factor 9 |
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Polygenic inheritance
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- Traits that are controlled by combined effects of a number of gene loci, which may or may not be on different chromosomes
- "Complex inheritance" - Alleles are neither dominant nor recessive, but rather are termed either "contributing alleles" or "non-contributing alleles" depending on whether they impart a phoenotypic effect |
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Ploidy
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A term referring to the number of chromosome sets per cell
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Euploid
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Variation of chromosomes by whole sets
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Aneuploid
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Variation of chromosome numbers by other than whole sets
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Trisomy, trisomic
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Cells, tissues, or individuals with an extra chromosome in an otherwise diploid chromosome complement. Trisomy is an aneuploid condition.
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Monosomy, monosomic
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Cells, tissues, or individuals with a chromosome missing from an otherwise diploid chromosome complement. Monosome is an aneuploid condition.
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Nondisjunction
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- failure of chromosome pairs to separate properly during cell division
- failure of homologous chromosomes to separate in meiosis I, or failure of sister chromatids to separate during meiosis II. - examples include down syndrome, turner syndrome, klinefelter syndrome, and triple x syndrome |
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Down syndrome
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- trisomy 21. termed 47, XX, +21
- large tongue, flat face, slanted eyes, single crease across palm, mental retardation typical |
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Edward syndrome
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- trisomy 18. termed 47, XY, +18
- heart defects, displaced liver, low-set ears, abnormal hands, severe retardation, 98% abort, lifespan < 1 year |
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Patau Syndrome
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- trisomy 13. termed 47, XX, +13
- cleft lip and palate, extra fingers and toes (polydactylism) - defects of heart, brain, kidneys - life span < 1 month, survival beyond one year is uncommon |
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Klinefelter Syndrome
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- termed 47, XXY
- breast development, small testes, sterile, low intelligence |
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Turner Syndrome
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- termed 45, XO
- Short, does not go through puberty, produce little estrogen, sterile, extra skin on neck |
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Translocation
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- When a portion of one chromosome is transferred to another chromosome. There are two main types of translocations:
1. reciprocal translocation, segments from 2 different chromosomes have been exchanged 2. Robertsonian translocation, an entire chromosome has attached to another at the centromere; these only occur with chromosomes 13, 14,15, 21, 22 |
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Isochromosome
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Formed by the mirror image copy of a chromosome segment including the centromere
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Ring
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A portion of a chromsome has broken off and formed a circle or ring. This can happen with or without loss of genetic material.
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Cri du chat
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- Due to missing part of the short arm of chromosome 5. 46, XX, 5p- or 46, XY, 5p-
- Affects an estimated 1 in 20,000 to 50,000 births - More common in females by a 4:3 ratio |
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4 Basic Types of Tissue
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- Epithelial
- Connective - Muscle - Nervous |
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Cell Junctions
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- Tight Junction, Adherens Junction, Desmosomes, Hemidesmosomes, Gap Junction
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Exocrine
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- Secrete to surface or lumen
- Typically are intracellular, and have ducts - Sweat, oil, mucus, enzymes |
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Endocrine
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- Secrete to extracellular space
- Ductless, having lost ducts during development - Diffuse to blood stream - Hormones |
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Holocrine
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- Whole cell is secreted
- Sebaceous oil glands of the skin are the only true example |
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Merocrine
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- Discharge secretory product
- Most exocrine glands |
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Apocrine
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- Apical portion discharge, cell repaired
- Only possibility in humans is mammary glands |
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Connective Tissue
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- Cells
- Extracellular matrix consisting of protein fibers, ground substance - few cells - Abundant; ubiquitous; varied - Mainly extracellular matrix - Highly vascular (in general; cartilage is avascular, and tendons have sparse blood supply) - Does not usually occur on body surfaces - Is supplied with nerves |
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Mast Cells
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- Granulated, large
- Abundant alongside blood vessels of connective tissue - Can be phagocytic - Store in granules: heparin, histamines, proteases, aryl sulfatases, ecf and ncf - Secondary mediators can be synthesized such as leukotrienes, thromboxanes, prostagladins, cytokines |
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Ground substance
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- Composed of water and an assortment of large molecules that are typically combination of polysaccharides and proteins
- Include: hyaluronic acid, chondrotin sulfate, dermatan sulfate, keratan sulfate; collectively known as glycosaminoglycans - negatively charged, very hydrophilic |
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Connective Tissue fibers
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- Collagen, Elastic, and Reticular
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Embryonic connective tissue
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- primarily in the embryo and in the fetus
- mesenchyme & mucous connective tissue |
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Mesenchyme
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- composed of irregularly shaped cells, a semifluid ground substance and reticular fibers
- pleuripotent cells - all other connective tissues eventually arise from mesechyme - located along developing bones of embryo and under the skin |
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Mucous Connective Tissue
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- AKA Wharton's jelly
- Variant of mesenchyme containing widely scattered fibroblasts, more viscous jelly-like ground substance, plus collagen fibers - Found in umbilical cord - High turgor resists compression |
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Loose Connective Tissue
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- Types: Areolar connective tissue, Adipose tissue, reticular connective tissue
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Areolar CT
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- One of the most widely distribuated connective tissues in the body
- Contains the "usual" types of connective tissue cells: fibroblasts, macrophages, plasma cells, adipocytes, white blood cells - Forms subcutaneous layer, attaching the skin to underlying tissue |
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Reticular CT
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- Consists of fine interlacing reticular fibers and reticular cells
- Forms the stroma (supporting framwork) of liver, spleen, lymph nodes - In spleen, reticular fibers remove effete red blood cells - In lymph nodes, reticular fibers filter lymph and remove bacteria - Type III collagen |
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Dense Connective Tissue
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- Subject to tensive forces
- Requires flexibility and strength - 3 types: dense regular connective tissue, dense irregular connective tissue, elastic connective tissue |
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Dense Regular CT
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- Bundles of collagen fibers regularly arranged in parallel patterns, providing tensile strength alone the axis of the fibers
- Fibroblasts produce fibers and ground substance, and are in rows between the fibers - Examples: tendons, aponeuroses, and most ligaments |
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Dense Irregular CT
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- Collagen fibers are abundant and not arrange in symmetrical or parallel fashion
- Found in parts where pulling forces are exerted in various directions - Locations include dermis of skin, pericaridum, heart valves, periosteum, sheath of nerves, kidney, lymph nodes, perichondrium |
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Elastic CT
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- Consists predominately of branching elastic fibers
- Property of elasticity - Located in large blood vessels, lung tissue - fibroblasts present in spaces between the fibers - unstained tissue has yellowish dolor due to the high numbers of elastic fibers |
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List of substances that can pass through he plasmalemma
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Oxygen, Carbon dioxide, fats, alcohol, fat soluble vitamins (A, D, E, K)
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3 functions of genes
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- code for polypeptides
- transcription into RNA - regulates transcription |
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Comparison of Epitheiulm vs CT
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Epithelium: lots of cells, few ground substances, few fibers, no arteries
CT: few cells, lots of ground substances, lots of fibers, lots of arteries |
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Function of CT
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Structural support, binding, and strengthening of other body tissues, protects and insulate internal organs, compartmentalizes, transports, stores energy, immune response
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