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2024 SEM 1 CYTOGENETICS > the information in a human genome > Flashcards

the information in a human genome Flashcards

1
Q

briefly explain the human genome project

A

1990-2003 - spearheaded by Dr Jerry Harrison with 20 volunteers

research on the genetic blueprint to find the base pair that makeup the human DNA
human genome that contains the overall specifications and instructions of the gene of human body

funded by the govt
only arnd 90% is discovered

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2
Q

it is the study of the inherited traits, rooted in DNA, and their variations and transmission

A

genetics

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3
Q

it considers how people are related and where their ancestors lived, using and comparing information from DNA sequences and evidence (example)

A

genetic genealogy
(old photographs, documents, maps, family storied and memories)

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4
Q

the transmission of of traits and biological information between generations

A

heredity

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5
Q

briefly explain genes

A

units of heredity
copies are passed from one generation to the next
tells cells how to manufacture proteins
long molecule DNA

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6
Q

Briefly explain DNA

A

biochemical that makes up the genes
found in the nucleus
nucleotides are the building blocks
- nitrogen containing base
-phosphate group
- sugar molecule

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7
Q

The complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequences

A

Genome

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8
Q

Briefly explain exome

A

encodes the protein
responsible for the aspects of health, unique
20,325 genes, 85% genetic disease
23 chromosomes

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9
Q

It is a field that analyzes and compare genomes of different species

A

Genomics

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10
Q

It addressed concerns that arise from the use of genetic technologies (includes)

A

Bioethics (tests, treatments, privacy and discrimination)

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11
Q

Briefly explain the level of genetics

A

Begins at molecular level
Cells
Tissue
Organs
Individuals
Families
Population

Those are the evolution of species

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12
Q

It resembeles a spiral stair case or a double helix

A

DNA

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13
Q

what do the “rails”/ backbone consist of

A

alternating chemical groups:
phosphate
sugar

they are the same in all DNA molecules

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14
Q

it is genetic information flows only in one direction (what is the direction)

A

central dogma
(DNA > RNA > PROTEIN)
(RNA directly to PROTEIN)

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15
Q

transcription is aka

A

gene expression

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16
Q

chains of the double helix untwist and separate and then each half build a new partner chain from free DNA bases

A

repliaction

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17
Q

it copies the sequence of one strand of DNA molecule into a related type of molecule, messenger ribonucleic acid (mRNA)

A

transcription

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18
Q

transcription involves what type of base

A

the fifth type of base called uracil

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19
Q

it is the opposite of transcription from RNA to DNA

A

reverse transcription

20
Q

each 3 RNA bases in a row attach another type of RNA that functions as a connector, bringing in a particular amino acid. the amino acid aligns and link snap beads, forming a protein

A

translation

21
Q

briefly explain
replication:
transcription:
reverse transcription:
translation:

A

replication: copying of dna
transcription: dna - rna
reverse transcription: rna - dna
translation: rna - proteins

22
Q

briefly explain mutation (example)

A

change in genes
can have an effect at the whole person level = cause disease
(the gene encoding CFTR protein, causing cystic fibrosis when in a variant form)

23
Q

the same protein-encoding gene may vary slightly in DNA base sequence from person to person

A

alleles

24
Q

the dna sequence of the human genome are grouped of how many chromosomes

A

23

25
Q

somatic cells

A

cells that doesn’t involve in reproduction like your muscle/ skin cells.
has 23 pairs of chromosomes. hence, 46 total

autosomes - 1 to 22 chromosomes, with 1 being the highest
sex chromosomes - the other 2 chromosomes (X&Y)
XX-FEMALE
XY-MALE

26
Q

chart that displays the chromosomes pairs from largest to smallest

A

karyotypes

27
Q

briefly explain mendelian and complex traits

A

mendelian traits
- by a single gene
(blood type)

complex traits
- by multiple genes and environmental factors (diet, lifestyle)
(height)

28
Q

who discovered the patterns of trait transmission

A

Gregor Mendel
(mendelian traits)

29
Q

it refers to the underlying DNA instructions (alleles present)

A

genotype

30
Q

it is the visible trait, biochemical change oor effect on health (alleles expressed)

A

phenotype

31
Q

it has an effect when present in just one copy (on one chromosomes)

A

dominant allele

32
Q

it must be present on both chromosomes of a pair to be expressed

A

recessive allele

33
Q

it charts that depict the members of a family and indicate which individuals have particular inherited traits

A

pedigree

34
Q

comparing DNA sequences among individuals to rule out identity, relationships or ancestry

A

establishing identity

35
Q

it is the techniques, statistical analyses and machine learning approached that are used to compare DNA sequences between and among individuals

A

dna profiling

36
Q

dna profiling is useful in identifying

A

victims of natural disasters and in analyzing food

37
Q

it connects the past to present, from determining family relationships to establishing geographic origins of specific populations

A

dna analysis

38
Q

it provides views into past epidemics

A

dna testing

39
Q

it is alterating a gene or genome in a way that does not occur in nature

A

gene modification

40
Q

it adds a gene from a different species

A

recombinant dna technology

41
Q

genome editing

A

it is more specific and powerful
can replace, remove or add specific genomes into the cells of any organism

42
Q

combining analysis of genetic diversity with reproductive technologies create a way to rebuild populations that are headed toward species extinction

A

conservation of genetics

43
Q

learning about health and development of disease through genome sequencing

A

precision medicine

44
Q

it iis used to guide prescription of more than 150 drugs, according to the food and drug administration

A

pharmacogenetics

45
Q

it determines the order of the DNA bases of all parts of the genome that encode proteins

A

exome sequencing

46
Q

it is valuable in identifying extremely rare disease

A

exome sequencing

2024 SEM 1 CYTOGENETICS (4 decks)

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