Term
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Definition
| Cell nucleus & Mitochondria |
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Term
| What is DNA responsible for? |
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Definition
| Storage of genetic information |
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Term
| Four nitrogenous bases of DNA |
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Definition
Purines: Adenine, Guanine
Pyrimadines: Cytosine, Thymine |
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Term
| What are the base pairs of DNA? |
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Definition
A&T
C&G
Connected by phosphate bonds. Combine in specific ways to form genes and chromosomes |
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Term
| Small functional hereditary units located on a specific site of a chromosome |
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Definition
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Term
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Definition
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Term
| What is the genetic code and who contains it? |
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Definition
| information for making a specific protein; genes contain this. |
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Term
| Genes occur in pairs in ______ cells and singly in ______ |
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Definition
Somatic cells
Gametes (sperm & ova) |
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Term
| Sequence of 3 nitrogenous bases forms a _______ |
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Definition
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Term
| ______ are necessary for protein synthesis |
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Definition
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Term
| Basic compounds produced by codons are known as what? |
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Definition
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Term
| ___ amino acids combine to form the basis of human proteins produced by _____ |
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Definition
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Term
| Allows production of a single amino acid from more than one combination of triplet nitrogenous in most cases |
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Definition
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Term
| How do the bases differ in RNA from DNA? |
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Definition
DNA: A&T, C&G
RNA: A&U, C&G (U=uracil) |
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Term
| Where are proteins made? And who delivers the genetic message? |
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Definition
| RNA delivers the message to the cell's cytoplasm where protein production takes place. |
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Term
| What are the 3 types of RNA involved in process of protein production? |
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Definition
Messenger RNA (mRNA)
Transfer RNA (tRNA)
Ribosomal RNA (rRNA) |
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Term
Name the RNA:
provides a template for protein synthesis depending on a codon sequence that is based on that of the complementary strand of DNA |
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Definition
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Term
| In ____ _____, certain piece of the RNA called _____ are retained and other segments, _____ are excised. |
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Definition
| Alternative Splicing; exons, introns |
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Term
Name the RNA:
Recognizes and binds a specific amino acid which it transfers to organelles called ribosomes |
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Definition
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Term
Name the RNA:
Ribosomes are formed by a combination of _____ produced in the nucleoulus. Ribosomes transported to cytoplasm where many attach to ____ _____ and begin protein synthesis (known as what process?) |
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Definition
| rRNA; endoplasmic reticulum; translation |
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Term
| Composed of double stranded DNA containing threadlike structures of genes, most commonly found in the cell nucleus |
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Definition
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Term
| Chromosomes in the nuclei of somatic cells go through a seiries of phases resulting in the creation of daughter cells with the same chromosome # and genetic makeup as original somatic cells |
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Definition
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Term
| Somatic cells contain chromosome pairs known as what? and linked by what? |
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Definition
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Term
| Each somatic cell contains ___ pairs of chromosomes, total of ___. Also known as the _____ number of chromosomes |
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Definition
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Term
| Of the total number of chromosomes ___ are _______ (chromosomes other than sex chromsome) and ___ are _______ |
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Definition
| 44 - autosomes, 2 - sex chromosomes |
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Term
| _____ contain only one of the chromosome pairs known as the ____ number of chromosomes |
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Definition
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Term
| Gametes are produced through what process? |
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Definition
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Term
| In meiosis, one cell produces ___ cells, each with half the number of chromosomes |
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Definition
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Term
| Study of the human genome, or the whole sequence of DNA is known as what? |
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Definition
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Term
| Laws of genetic traits described by who? What 4 categories? |
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Definition
Mendel
Autosomal dominant, autosomal recessive, sex-linked dominant, sex-linked recessive |
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Term
| Each parent contributes one set of chromosomes, ensuring that each offspring has __ genes at each ____ |
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Definition
| 2; locus (location on the chromosome) |
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Term
| Genetic makeup of the individual |
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Definition
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Term
| Refers to the traits that are apparent or observable. |
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Definition
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Term
| A series of two or more different genes occupying the same location on a specific chromosome |
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Definition
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Term
| Traits resulting from the interaction between several genes and environmental factors |
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Definition
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Term
| Errors in DNA duplication |
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Definition
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Term
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Definition
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Term
| Gene occuring in more than one form |
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Definition
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Term
| The way a gene is expressed in the phenotype |
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Definition
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Term
| The ability of a gene to express a mutation |
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Definition
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Term
| Traits passed on by the transmission of a single gene |
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Definition
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Term
| When people have identical alleles, they are _____ for that gene |
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Definition
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Term
| Two different alleles on each chromosome, they are ____ for that gene |
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Definition
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Term
| Inheritance of single gene traits follows a ______ pattern of predictable trait transmission based on autosomal dominant or recessive genotypes |
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Definition
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Term
| ______ forms of a gene are more likely to be expressed in a person |
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Definition
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Term
| _____ genes are less influential, requiring homozygous alleles to be expressed |
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Definition
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Term
| ____ chromosomes are much larger than ____ chromosomes and therefore carry much more genetic material |
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Definition
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Term
| Traits passed on by sex chromosomes |
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Definition
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Term
| Sex-linked traits are most often _____ and linked to the ___ chromosome. |
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Definition
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Term
| Females are usually carriers of X linked disorders because why? |
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Definition
| Females possess 2 copies of the X chromosome, one becomes inactivated, leading to the variable expression patterns of X linked genes. Males are usually affected because they have only one X chromosome |
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Term
| When must mutations occur in order to be inheritable? |
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Definition
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Term
| Mutations are caused by the change of a ___ ____ that leads to an error in the _____ of a single codon which in turn leads to the abnormal formation of _____ |
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Definition
| base pair; transcription; proteins |
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Term
| Most hereditary disorders involve genes on ______ |
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Definition
| Autosomes. These affect females and males equally because it does not involve sex chromosomes |
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Term
| Autosomal dominant disease; if one parent is heterozygous for the disorder, each child has a ____ chance of inhereting the damaged gene. If inherited, what happens? |
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Definition
| 50%; if inherited (dominant allele) it is likely to lead to disease. |
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Term
List the type of disorder:
Huntington's Disease |
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Definition
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Term
List the type of disorder:
Marfan's Syndrome |
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Definition
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Term
List the type of disorder:
Osteogenesis imperfecta |
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Definition
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Term
| In autosomal recessive disorders, the child must be _______ for the mutated gene in order to express the disease |
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Definition
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Term
| Individuals who are heterozygous for a recessive gene mutation are known as _______ |
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Definition
| Carriers (gene present in genotype but not in phenotype) |
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Term
List the type of disorder:
Cystic fibrosis |
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Definition
| Autosomal Recessive Disorder |
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Term
List the type of disorder:
Tay-Sachs disease |
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Definition
| Autosomal Recessive Disorder |
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Term
List the type of disorder:
thalassemia |
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Definition
| Autosomal Recessive Disorder |
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Term
List the type of disorder:
Sickle Cell Disease |
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Definition
| Autosomal Recessive Disorder |
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Term
| Mutations of genes located on the sex chromosomes (X or Y) |
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Definition
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Term
| Most sex linked disorders are _____ and are linked to genes on the ___ chromosome |
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Definition
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Term
| In sex linked disorders, when the father is the carrier in an X linked disorder; how will the children be affected? |
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Definition
All daughters will be carriers
All sons will be unaffected |
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Term
| In sex linked disorders, when the mother is the carrier & passes it to her child; what is their chance of being affected? |
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Definition
Daughters will have a 50% of being a carrier
Sons will have a 50% of being affected |
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Term
List the type of disorder:
Hemophilia |
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Definition
| Sex linked disorder (x linked) |
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Term
List the type of disorder:
XSCID |
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Definition
| Sex linked disorder (x linked) |
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Term
| Although most genes are found in the cell nucelus, several dozen genes can be found where and are often related to what? |
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Definition
| In the mitochondria; often related to energy production |
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Term
| Who are most mitochondrial genes passed on through? |
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Definition
| The mother (gametes/ova). The sperm do not carry a significant number of mitochondrial genes, therefore men do not pass mitochondrial gene disorders on to their offspring. |
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Term
| Genes transmitted only through female or maternal lines |
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Definition
| Matrilineal inheritance pattern |
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Term
List the type of disorder:
Leigh Syndrome |
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Definition
Mitochondrial Gene Disorder
Manifestations occur in first year - hypotonia, spacicity, peripheral neuropathy, encephalopathy, ataxia, vision and hearing loss. |
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Term
| Refers to the random distribution of mitochondria to daughter cells during embryonic cell division |
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Definition
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Term
| When are manifestations of mitochondrial gene disorders revealed? |
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Definition
| When mutant mitochondria reach a critical level or threshold |
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Term
| Expression of disease often involves a complex interaction of multiple factors that impact the interaction between genes and environment. |
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Definition
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Term
| Phenotypic expression of polygenic disorders/traits is what? |
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Definition
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Term
| Factors that can increase expression of disease include what? |
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Definition
| Chemicals (alcohol/drugs/hormones), nutrition, altitude |
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Term
The following are examples of what?
cleft lip/palate, clubfoot, neural tube defects (NTD's) - anencephaly & spina bifida |
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Definition
| Multifactorial disorders (polygenic) |
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Term
The following are examples of what?
Hypertension, coronary artery disease, diabetes, many cancers |
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Definition
Multifactorial disorders (polygenic)
These are not expressed until the person ages |
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Term
| Chromosomal alterations can be detected by assessing an individual's _____ |
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Definition
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Term
| A picture of arranged, paired, like chromosomes in order of largest to smallest |
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Definition
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Term
| Chromosomes separate during mitosis and meiosis in a process known as what? |
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Definition
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Term
| When chromosomes fail to separate, the result is known as what? |
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Definition
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Term
| _______ results in an unequal number of chromosomes between cells. The ____ determines the # of cells involved. |
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Definition
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Term
| The combination of cells with the regular chromosome number and those with an altered number of chromosomes |
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Definition
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Term
| The risk of nondisjunction increases with ______ |
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Definition
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Term
| Occurs when nondisjunction results in cells with one copy of a chromosome instead of two |
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Definition
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Term
| If monosomy occurs in autosomes, is it compatible with life? |
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Definition
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Term
| If monosomy occurs in the sex chromosome, is it compatible with life? |
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Definition
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Term
| Refers to the presence of 3 copies of a chromosome in a cell |
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Definition
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Term
| If a large chromosome is affected with trisomy, is it compatible with life? |
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Definition
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Term
| Trisomy 21 is known was what condition? |
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Definition
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Term
| Occurs when a large segment of DNA breaks from one chromosome and reattaches to a different chromosome, often during meiosis |
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Definition
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Term
| If translocation is balanced, will it affect the individual? |
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Definition
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Term
| These change the expression of the gene without causing genetic mutation. |
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Definition
| Epigenetic Modification; fragile X is inherited through the mother. |
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Term
| Usually the result of environmental influences that alter gene function, contributing to the expression of altered structure or function. Occur after conception so these are not inheritable |
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Definition
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Term
| What can developmental disorders be the result of? |
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Definition
| Chemicals, horomones, drugs, pathogens, other environmental factors |
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Term
| Factors for congenital birth defects |
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Definition
- Intrauterine/nutritional environments that impair appropriate development
- Result of a pathogen challenge prior to fetus' ability to mount an adequte immune response
- Exposure to drugs/toxins in maternal system |
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Term
| Risk of damage to a developing child is greatest during what period? (weeks included) |
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Definition
| Embryologic period (weeks 3-8 of gestation) |
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Term
| Damage prior to embryologic period results mainly in what? |
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Definition
| Spontaneous abortion; interferes with implantation |
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Term
| Substances that cause damage to developing embryos or fetuses are known was what? |
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Definition
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Term
| What is the leading cause of mental retardation in the United States? |
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Definition
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Term
| What is used to screen for abnormalities in the physical structure of the fetus? |
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Definition
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Term
| What is amniocentisis done for? |
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Definition
| To diagnose disease in fetus. |
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Term
| In order to diagnose fetal abnormalities, what must you have? |
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Definition
| Cells samples of fetal origin |
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Term
| First step towards a genetic diagnosis is what? |
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Definition
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Term
| These are helpful in the tracking of inheritable single gene, chromosomal, and multifactorial disorders |
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Definition
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Term
| This helps determine the presence of chromosomal abnormalities |
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Definition
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Term
| Neurologic disorder caused by degeneration of the basal ganglia and cortical regions of the brain |
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Definition
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Term
| What kind of disease huntington's? |
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Definition
| Autosomal dominant disease; 50% transmission rate to children |
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Term
| What gene and chromosome are affected in Huntington's disease? |
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Definition
Gene: Huntingtin
Chromosome: 4 |
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Term
| Huntington's disease is characterized by the repeat expansion of what trinucleotide? |
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Definition
| CAG. This genetic mutation generates a code for the abnormal huntingtin protein which accumulates to toxic levels and destroys nerve cells, resulting in atrophy of the brain. |
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Term
| What are some clinical manifestations of HD? |
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Definition
| Involuntary mvmts, cognitive impairment, emotional disturbance, dyskinesia (difficulty in performing voluntary mvmts) |
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Term
| Genetic testing prior to the onset of symptoms is known as what? |
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Definition
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Term
| Disease that affects RBC's HbA in RBC's is replaced by HbS. |
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Definition
|
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Term
| What gene and chromosome are involved in Sickle Cell Anemia? |
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Definition
Gene: beta globin genes (bS)
Chromosome: 11 |
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Term
| What type of disease is Sickle Cell Anemia? |
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Definition
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Term
| Sickle cell anemia is the result of a ____ ____ mutation. And follows a _____ pattern of inheritance. |
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Definition
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Term
| How does HbS change RBC's? |
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Definition
| Makes them stiff, sickle shaped; lifespan reduced from 120 to 16 days. |
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Term
| What kind of mutation is sickle cell anemia? What amino acids are involved? |
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Definition
| Point mutation in which valine is substituted for glutamine on the B chain of hemoglobin of RBC's. |
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Term
| What are some pathological changes associated with SCA? |
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Definition
| When exposed to low O, hemoglobin's shape distorted to HbS. This causes damage to endothelial cells. Trapping of RBC's in spleen causes hemolysis. Results in anemia. |
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Term
| What are some clinical manifestations of SCA? |
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Definition
| Jaundice, low O2 levels, anemia, sickle cell crisis, tissue ischemia which leads to pain, stroke/priapism (related to ischemia), organ damage, decreased immune function (related to spleen damage) |
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Term
| Most common form of inherited intellectual disablity in boys |
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Definition
|
|
Term
| What gene is involved with fragile X syndrome? |
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Definition
| FMR1 gene on X chromosome |
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Term
| What kind of mutation is fragile X? |
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Definition
|
|
Term
| What is fragile X syndrome characterized by? |
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Definition
| Repitition of CGG trinucleotide |
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Term
| Alteration in chromosomal number |
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Definition
|
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Term
| When an error in cell division occurs after fertilization, child may develop 2 cell lines: one with usual chromosome complement and one with trisomy 21. This is known as what? |
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Definition
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Term
| In trisomy 21, when it occurs with issues with seperation during meiosis, what type occurs? |
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Definition
| Random due to nondisjunction |
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Term
| What is the inheritable form of trisomy 21? |
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Definition
| Unbalanced chromosomal translocations |
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