unit 5 bio Flashcards

(42 cards)

1
Q

Alleles

A

one of two or more alternative versions or forms of a gene that arise from mutations, occupying the same specific location on a chromosome

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2
Q

Aneuploidy

A

the condition of having an abnormal number of chromosomes in a cell

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3
Q

autosomes

A

any chromosome that is not a sex chromosome

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4
Q

barr body

A

Barr body is a condensed, inactivated X chromosome found in the nucleus of somatic cells in female mammals, appearing as a dark spot, which balances the expression of X-linked genes between sexes by effectively reducing one X chromosome to one single X

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5
Q

chiasma

A

a point at which paired chromosomes remain in contact during the first metaphase of meiosis, and at which crossing over and exchange of genetic material occur between the strands.

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6
Q

codominance

A

a genetic pattern where both alleles from each parent are fully and equally expressed in the offspring’s phenotype, resulting in a trait that shows both parental characteristics distinctly, not blended

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7
Q

complete dominance

A

where one allele (the dominant) completely masks the effect of another allele (the recessive) in a heterozygous individual, resulting in the dominant phenotype being fully expressed, as if the recessive allele weren’t even there

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8
Q

crossing over

A

process during meiosis where homologous chromosomes exchange segments of their DNA, creating new combinations of genes on the chromatids, which significantly increases genetic diversity in gametes and ultimately in offspring, driving evolution and adaptation

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9
Q

cystic fibrosis

A

an inherited genetic disorder caused by a mutation in the CFTR gene, leading to the production of abnormally thick, sticky mucus that clogs airways and ducts in organs like the pancreas, lungs, and liver, causing chronic infections, breathing difficulties, digestive problems, and organ damage over time

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10
Q

Depletion

A

the reduction, loss, or emptying of essential substances like body fluids, nutrients, stored materials, or cells from an organism or ecosystem, often happening faster than they can be replenished, leading to debilitation or resource scarcity

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11
Q

diploid cell

A

a cell containing two complete sets of chromosomes, one inherited from each parent, forming homologous pairs (2n)

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12
Q

down syndrome

A

a chromosomal condition caused by having an extra full or partial copy of chromosome 21, leading to extra genetic material that alters development, causing characteristic physical features, intellectual disabilities, and increased health risks, most commonly due to Trisomy 21 resulting from a cell division error called nondisjunction

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13
Q

duchenne muscular dystrophy

A

a severe, genetic disorder causing progressive muscle degeneration, primarily in boys, due to mutations in the DMD gene, leading to the absence of the crucial dystrophin protein that stabilizes muscle fibers, resulting in rapid weakness, loss of mobility, and eventual reliance on wheelchairs and ventilation, with symptoms starting in early childhood

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14
Q

Duplication

A

a genetic mutation where a segment of DNA, from a single gene to a large chromosomal region, gets copied, creating extra genetic material in the genome

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15
Q

Gametes

A

specialized reproductive cells that carry half the genetic material needed to form a new organism

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16
Q

Genome

A

the complete set of an organism’s genetic material, containing all the instructions needed to build, function, and reproduce that organism, encompassing genes and non-coding sequences organized into chromosomes

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17
Q

haploid cell

A

contains a single set of unpaired chromosomes, meaning it has half the number of chromosomes as a normal diploid body cell

18
Q

Hemophilia

A

a genetic bleeding disorder where the blood clots too slowly due to a lack or deficiency of essential clotting factor proteins

19
Q

homologous chromosomes

A

pairs of chromosomes, one from each parent, that are similar in size, shape, and gene sequence, carrying the same genes at the same locations but potentially different versions of those genes

20
Q

Huntington’s disease

A

a fatal, inherited neurological disorder caused by a mutated gene leading to nerve cell breakdown and death in the brain, resulting in uncontrolled movements, cognitive decline, and psychiatric issues, characterized by a CAG repeat expansion that creates a toxic, abnormal huntingtin protein, damaging neurons over time

21
Q

Hybridization

A

the process of combining genetic material from two different, distinct individuals through reproduction to create offspring

22
Q

incomplete dominance

A

a pattern where neither allele for a trait is fully dominant, resulting in a heterozygous phenotype that is an intermediate blend of the two homozygous traits

23
Q

Inversion

A

a chromosomal mutation where a chromosome segment breaks off, flips 180 degrees, and reattaches, reversing its gene order

24
Q

Karyotype

A

an individual’s complete set of chromosomes, organized by size, shape, and number, often presented as a visual chart to identify genetic abnormalities like extra or missing chromosomes, which helps diagnose genetic disorders or cancers

25
law of independent assortment
alleles for different genes segregate and are distributed into gametes independently of each other during meiosis
26
law of segregation
during the formation of sex cells, the two alleles for a trait separate, ensuring each gamete receives only one allele, so offspring inherit one allele for each gene from each parent, leading to varied trait combinations
27
linkage map
a genetic map showing the relative positions of genes or markers on a chromosome, determined by how often they recombine during sexual reproduction
28
linked genes
genes located close together on the same chromosome that tend to be inherited together during meiosis because they are less likely to be separated by crossing over
29
Monosomic
a genetic condition where one chromosome from a pair is missing, resulting in 45 chromosomes instead of the usual 46 in humans, often due to an error during cell division
30
Nondisjunction
the failure of homologous chromosomes or sister chromatids to separate properly during cell division
31
parental types
offspring whose combination of alleles or traits is identical to one of the original parents, resulting from the inheritance of linked genes that don't get shuffled during meiosis
32
Pedigree
a diagram showing family relationships and the inheritance of traits or genetic conditions across generations
33
polygenic inheritance
when a single trait, like height or skin color, is controlled by the cumulative effects of multiple genes, not just one, leading to a wide, continuous range of phenotypes instead of distinct categories
34
Polyploidy
the condition where a cell or organism has more than two complete sets of chromosomes, rather than the usual two sets
35
Recombinants
a cell, organism, DNA molecule, or protein that has been formed by combining genetic material from two different sources, often through laboratory techniques or natural processes like sexual reproduction, resulting in new gene combinations not found in the parents, which increases genetic diversity
36
sex linked genes
located on the sex chromosomes leading to inheritance patterns that differ between males and females because they have different sex chromosome combinations
37
sickle cell anemia
an inherited blood disorder where a genetic mutation causes red blood cells, normally round and flexible, to become stiff, sticky, and crescent-shaped
38
somatic cell
any cell in a multicellular organism that isn't a reproductive cell or a stem cell, forming the body's tissues and organs
39
tay sachs
a severe, inherited neurological disorder where a genetic defect causes the body to lack the enzyme hexosaminidase A, leading to toxic buildup of lipids in nerve cells, primarily the brain and spinal cord, resulting in progressive neurological damage, developmental delays, muscle weakness, seizures, and eventual death, usually in early childhood for the common infantile form
40
Tetrad
the structure formed during meiosis where a pair of homologous chromosomes, each already duplicated into two sister chromatids, come together, creating a group of four chromatids
41
Translocation
moving substances or structures from one place to another, most commonly referring to the transport of sugars in plants via the phloem or a genetic rearrangement where chromosome parts swap or attach to different chromosomes, affecting gene function
42
wild type
the most common or "normal" version of a gene, allele, or phenotype found in a natural population