Topic 2 (Ch. 2) Flashcards

(49 cards)

1
Q

Chromosomes

A

Threadlike structures made up of deoxyribonucleic acid (DNA).

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2
Q

DNA

A

A complex molecule that has a double helix shape, like a spiral staircase and contains genetic information.

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3
Q

Genes

A

The units of hereditary information, are short segments of DNA. They help cells to reproduce themselves and to assemble proteins.

Each gene has its own location—its own designated place on a particular chromosome.

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4
Q

Proteins

A

The building blocks of cells as well as the regulators that direct the body’s processes.

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5
Q

genome-wide association method

A

method to identify genetic variations linked to a particular disease

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6
Q

Linkage analysis

A

Method to discover the location of a gene (or genes) in relation to a marker gene (whose position is already known), is often used to search for disease-related genes.

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7
Q

Next-generation sequencing

A

A term used to describe the vast increase in genetic data generated.

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8
Q

Thousand Genomes Project

A

The most detailed study of human genetic variation to date.

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9
Q

Human genome

A

Rather than being a group of independent genes, the human genome consists of many genes that collaborate both with each other and with nongenetic factors inside and outside the body.

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10
Q

mitosis 

A

Cellular reproduction in which the cell’s nucleus duplicates itself with two new cells being formed, each containing the same DNA as the parent cell, arranged in the same 23 pairs of chromosomes.

NOT sex cells!!!

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11
Q

meiosis

A

A specialized form of cell division that occurs to form eggs and sperm (also known as gametes)

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12
Q

zygote

A

A specialized form of cell division that occurs to form eggs and sperm (also known as gametes)

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13
Q

XX vs XY

A

females this pair consists of two chromosomes called X chromosomes; in males, the 23rd pair consists of an X and a Y chromosome

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14
Q

mutated gene

A

A permanently altered segment of DNA.

Most mutated genes are recessive.

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15
Q

susceptibility genes

A

Genes that make the individual more vulnerable to specific diseases or accelerated aging (

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16
Q

longevity genes

A

Genes that make the individual less vulnerable to certain diseases and more likely to live to an older age.

genetic variants in a human daf-16 version labeled FOX03A are linked to greater longevity in a wide range of people

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17
Q

X-linked inheritance

A

When a mutated gene is carried on the X chromosome.

Males more susceptible b/c they only have one X chromosome.

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18
Q

examples of X-linked inheritance diseases

A

Hemophilia
fragile X syndrome

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19
Q

Genetic imprinting

A

Occurs when the expression of a gene has different effects depending on whether the mother or the father passed on the gene.

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20
Q

examples of genetic imprinting diseases

A

Beckwith-Wiedemann syndrome (a growth disorder)
Wilms tumor (a type of cancer)

21
Q

polygenic inheritance

A

many different genes determine a characteristic

22
Q

gene-gene interaction

A

Describes the interdependent process by which two or more genes influence characteristics, behavior, diseases, and development

23
Q

Down syndrome

A

A form of intellectual disability caused by the presence of an extra copy of chromosome 21.

An individual with Down syndrome has a round face, a flattened skull, an extra fold of skin over the eyelids, a protruding tongue, short limbs, and impaired motor and mental abilities.

24
Q

Sex-linked chromosomal abnormalities

A

Involve the presence of an extra chromosome (either an X or Y) or the absence of one X chromosome in females.

25
Klinefelter syndrome
A chromosomal disorder in which males have an extra X chromosome, making them XXY instead of XY. Symptoms include enlarged breasts, small testes, tall
26
Fragile X syndrome (FXS)
A genetic disorder that results from an abnormality in the X chromosome, which becomes constricted and often breaks. More frequent in males. Symptoms include intellectual disability, autism, a learning disability, or a short attention span.
27
Turner syndrome
A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted. Symptoms include: short in stature and have a webbed neck, difficulty in mathematics, but their verbal ability is often quite good.
28
XYY syndrome
A chromosomal disorder in which a male has an extra Y chromosome. XYY males are no more likely to commit crimes than are normal XY males.
29
phenylketonuria (PKU)
A genetic disorder in which an individual cannot properly metabolize an amino acid called phenylalanine. PKU is now easily detected but, if left untreated, results in intellectual disability and hyperactivity.
30
Sickle-cell anemia
A genetic disorder that impairs the functioning of the body’s red blood cells. Occurs most often in African Americans
31
Prenatal diagnostic tests
A number of tests can indicate whether a fetus is developing normally, including ultrasound sonography, fetal MRI, chorionic villus sampling, amniocentesis, and maternal blood screening
32
Ultrasound sonography
A prenatal medical procedure in which high-frequency sound waves are directed into the pregnant woman’s abdomen. Virtually no risk to woman or fetus.
33
fetal MRI
Provides more detailed images than ultrasound. Can detect certain abnormalities of the central nervous system, chest, gastrointestinal tract, genital/urinary organs, and placenta.
34
Chorionic villus sampling (CVS)
A prenatal medical procedure in which a small sample of the placenta (the vascular organ that links the fetus to the mother’s uterus) is removed. detects genetic defects and chromosomal abnormalities .
35
Amniocentesis
A prenatal medical procedure in which a sample of amniotic fluid is withdrawn by syringe and tested for chromosomal or metabolic disorders. Small risk of miscarriage.
36
Maternal blood screening
Identifies pregnancies that have an elevated risk for birth defects such as spina bifida (a defect in the spinal cord) and Down syndrome.
37
Infertility
The inability to conceive a child after 12 months of regular intercourse without contraception.
38
in vitro fertilization (IVF)
Procedure in which eggs and sperm are combined in a laboratory dish. If any eggs are successfully fertilized, one or more of the resulting zygotes is transferred into the woman’s uterus.
39
Adoption
A social and legal process that establishes a parent-child relationship between persons unrelated at birth.
40
Three pathways to adoption
(1) domestic adoption from the public welfare system (2) domestic infant adoption through private agencies and intermediaries (3) international adoption
41
Adoption outcomes
a majority of adopted children and adolescents (including those adopted at older ages, transracially, and across national borders) adjust effectively, and their parents report considerable satisfaction with their decision to adopt
42
Adoption Study
A study in which investigators seek to discover whether, in behavior and psychological characteristics, adopted children are more like their adoptive parents, who provided a home environment, or more like their biological parents, who contributed their heredity. Another form of the adoption study compares adoptive and biological siblings.
43
passive genotype-environment correlations 
Correlations that exist when the natural parents, who are genetically related to the child, provide a rearing environment for the child.
44
evocative genotype-environment correlations 
Correlations that exist when the child’s genetically influenced characteristics elicit certain types of environments.
45
Active (niche-picking) genotype-environment correlations
Correlations that exist when children seek out environments that they find compatible and stimulating.
46
Niche-picking
refers to finding a setting that is suited to one’s genetically influenced abilities.
47
epigenetic view
States that development reflects an ongoing, bidirectional interchange between heredity and the environment. Bidirectional relationship: Heredity < -- > Environment
48
heredity-environment correlations
Concept that individuals’ genes may be systematically related to the types of environments to which they are exposed. One way relationship: Heredity -> Environment
49
Gene × Environment (G × E) Interaction
The interaction of a specific measured variation in DNA and a specific measured aspect of the environment.