The Information in a Human Genome Flashcards
- The study of inherited traits, rooted in DNA, and their variations and transmission.
Genetics
A powerful source of information about our identities that can reveal or revise what we know about our past, reach ourdiagnoses and target health treatments in the present and predict our medical futures.
Genetics
considers how people are related and where their ancestors lived, using and comparing information from DNA sequences and evidence such as documents, old photographs, maps and family stories and memories.
Genetic Genealogy
the transmission of traits and biological information between generations, and genetics is the study of how traits are transmitted.
Heredity
function as the units of heredity in that copies of genes are passed from one generation to the next.
Genes
Genes are biochemical instructions that tell ____________, the basic units of life, how to manufacture certain proteins.
Cells
(basic unit of life) > Chromosomes > DNA > Nucleotide
Cell
A gene consists of the longb molecule
Deoxyribonucleic Acid (DNA)
it transmit information in its sequence of four types of building blocks, which function like an alphabet.
Deoxyribonucleic Acid (DNA)
Most of a cell’s DNA is in a structure called
Cell Nucleus
The complete set of genetic of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequence, constitues a ________.
Genome
Only about 1 percent of the 3.2 billion building blocks of our genome specify ________.
Proteins
This tiny slice of genome called the ______ responsible for amany aspects of health and our traits including differences.
exome
Analyzing and comparing genomes constitutes the field of _____
genomics
Field that analyzes and compare genomes of different species
Genomics
addresses concerns that arise from the use of new genetic technologies, including tests, treatments, privacy and discrimination.
Bioethics
A field study that began in the 1970s to address moral issues and controversies that arise in applying medical technology.
Bioethics
Confront concerns that arise from new genetic technology, such as privacy, use of genetic information and discrimination.
Bioethicists
A molecule resembles a spiral staircase or double felix.
Deoxyribonucleic acid, DNA
consists of alternating chemical groups (sugars and phosphates) and are the same in all DNA molecules.
Rail or Backbone
The “steps” of the DNA double helix are pairs of the four types of building blocks,
Nitrogenous Bases:
- Adenine (A)
- Thymine (T), which attracts each other
- Cytosine (C)
- Guanine (G), which attracts each other
The chemical structure of DNA gives the molecule two key abilities that are essential for being the basis of life:
- DNA can replicate itself when a cell divides
- its information accessed to manufacture specific proteins.
the chains of the double helix untwists and separate, and then each half builds a new partner chain from free DNA bases.
DNA replication
Chemical attractions called ________ hold the bases of a pair together.
Hydrogen Bond
it copies the sequence of part of one strand of a DNA molecule into a related type of molecule, messenger Ribonucleic Acid (RNA)
DNA Transcription
The green five-sided shapes represent the _______.
Srugars
The dots that connect that bases into pairs represent hydrogen bonds include a fifth type of base, ______, in place of the T in DNA.
Uracil (U)
Transcription is also called ______
Gene Expression
In _________, each three RNA bases in a row attact another type of RNA that functions as a connector, bringing in a particular amino acid.
Translation
It provides the trait associated with genes
Proteins
A change in a gene is a ______, and it can have an effect at the whole-person level such as a disease.
Mutation
- The same protein-encoding gene may vary slightly in DNA base sequence from person to person. These gene variants are called _________.
- Alternate form of a gene
Alleles
Has an effect when present in just one copy (one chromosomes)
Dominant Allele
Must be present on both chromosomes of a pair to be expressed.
Recessive Allele
Mutations that have no detechable effect because they do not change the encoded protein in a way that affects its functions are sometimes called _______
Gene Variants
a permanent change in the DNA sequence that makes up a gene.
Gene Variants
The DNA sequence of the human genome are grouped among 23 structures called _______________
chromosomes
The use, or expression of different subsets of genes to manufacture proteins drives the ___________ or specialization, of distinctive cell types.
Differentiation
Groups of differentiated cells assembled and interact with each other and the nonliving materials that they secrete to form aggregiates called ____________
Tissues
A human __________ (non-sex cell) has 23 pairs of chromosomes, equaling two complete sets of genetic information (genomes).
Somatic Cell
The 22 of these 23 pairs are ________, which do not differ between sexes.
Autosomes
The other 2 chromosomes, the X and the Y, are the _____________
Sex Chromosomes
A female has two ____________
X chromosomes
A male has one _____________
X and Y chromosomes
- it display the chromosomes pairs from largest to smallest
- An size-order chart of chromosomes pairs.
Karyotypes
A trait caused predominantly by a single gene is termed ________________, named for _________________, who discovered the patterns of trait transmission.
Mendelian
Gregor Mendel
It means that they are determined by one or more genes and environmental factors.
- A trait that does not follow Mendelian Inheritance patterns, is likely dervied from multiple genes, and exhibits a large variety of phenotypes.
Complex Traits
- Refers to the underlying DNA instructions (alleles, present)
- The allele combinations in an indivdual that cause traits or disease.
Genetype
Visible trait, biochemical changes, or effect on health (alleles expressed)
Phenotype
- depict the members of a family and indicate which individuals have particular inherited traits
- A chart of symbols connected by lines that depicts the genetic relationships of and transmission of inherited traits in a family.
Pedigrees
All the alleles in the population
Gene Pool
Refers to the techniques, statistical analyses and machine learning approaches that are used to compare DNA sequences between and among indivdual.
DNA profiling
It can provide views into past epidemics
DNA Testing
All the of the organisms that live in and on another organisms.
Microbiome
Testing for a gene variant that affects metabolism of a specific drug.
Pharmacogenetics
It means altering a gene or genome in a way that does not occur in nature
Gene Modification
GMO
Genetically Modified Organisms
Adding a gene from one species to the genome of another, to program production of a desired protein or trait.
Recombinant DNA Technology
Creating double-stranded breaks in the DNA double helix, enabling insertion or removal of a specific sequence.
Genome Editing
