Genes and Genetic Diseases Flashcards
When describing specific risk factors and measuring the effect on disease occurance, the term ___ ___ is used and utilizing the ratio of an increased rate of disease of people _____ to the risk factor divided by those _____ exposed to the risk factor.
- relative risk, 2. exposed, 3. not
____ _____ _____ is considered the highest rated killer of all Americans
Coronary Heart Disease
________ is when a copy of a parent’s chromosome becomes inactivated and remains inactive in all somatic cells.
Imprinting.
A DNA subunit or a _____ is comprised of one ______ _____, one _____ _____ and one _____
- nucleotide. 2. deoxyribose molecule, 3. phosphate group, 4. base
_-______ _______ define differences in nucleotide sequence as differences between individuals.
Single-nucleotide polymorphisms (SNPs)
An emerging drug __ _______ is being observed as binding to guanine in place of cytosine and helping to reverse accumlation of methylation at tumor suppressor loci which in turn may aid in the reduction of cancer.
5-Azacytidine
While ____ do not directly code proteins, they do bind with _____ via ______ and are aided by _____ located in the cytoplasm to facilitate amino acid translation.
- mRNA, 2. tRNA (Transfer), 3. anticodons, 4. ribosomes
The _____ __ _______ ________ states that the inheritance of one gene has no effect on the transmission of other genes.
Principle of Independent Assortment
When thinking about disease causing genes and expressions, two types of mutations can alter and amplify the disease, a ______ mutation only involves a single base substitution and can cause a mild version of the disease. While a ______ mutation can cause an early stop codon and terminate a gene sequence causing a more severe version of the disease.
- missense, 2. nonsense
When it comes to DNA replication, the most important protein involved is the ______ _____ which is tasked with ______ as well as _______
- DNA polymerase, 2. adding nucleotides to free strands, 3. proof-reading DNA strands for complimentary base compatibility.
____-___ ____ ____ , or gene engineering, remains as an experimental process that allows insertion of ‘correct’ DNA into a patient’s DNA at a somatic or embryotic level.
CRISPR-Cas9 gene editing
_______ is the substance found in the formation of chromosomes.
Chromatin
When the body anticipates increased stress, it can induce _____ or an adaption that causes mild stress to begin additional compensatory mechanisms.
hormesis
Aneuploidy is thought to occur due to _____ or an error of chromosomes/sister chromatids to properly separate during meiosis/mitosis.
Nondisjunction.
_____ is the process where RNA directs synthesis of polypeptides
- Translation
Traits that are thought to be affected by variation and combined effects of different genes is considered _____
polygenic
The process involved with decreasing histone bonds with DNA is called ______ whereas the opposite of making the bonds stronger OR likely to inhibit expression is _______
- Histone acetylation, 2. Histone methylation
_____ provide a display of chromosomes that can be obtained via ______ or ______
- karyotype, 2. Amniocentesis, 3. Chorionic villus sampling (CVS)
When describing the likelihood of recombination of alleles, a ____ ____ is used to assess the distance between genotypes and equal roughly ______ ______ DNA base pairs, after 50 map units the pairs are considered unlinked.
- map unit, 2. one million
In Eukaryotes, an important step with RNA before leaving the nucleus involves removing sequences of RNA to form the functional _____. The _____ are the removed sequences, while the ____ are left to code proteins
- mRNA (Messenger), 2. Introns, 3. Exons (Think exiting the cell)
One example of inheritance that does not follow Mendelian genetics is ______ inheritance where the egg (mother) will pass on ______ DNA whereas the ____ ___ typically do not unless in rare cases of genetic diseases.
- mitochondrial, 2. mitochondrial, 3. sperm cells
_____ are enzyme complexes that break down and remove old _____
- proteosomes, 2. proteins
Tightly bound histones to DNA are considered _______ and are often found in inactive __ chromosomes vs. more loose bonds between the two which is considered a _______ bond that can be found on active __ chromosomes and are normally used as a template for mRNA production.
- Heterochromatic, 2. X, 3. Euchromatic, 4. X
___ ____ ____ or “cry of the cat” can occur due to a deletion or a break in the DNA sequence during cell replication in chromosome ____, s/s: microcephaly, heart defects and the characteristic cry.
- cri du chat, 2. 5
When considering the likelihood of environmental factors causing disease through genetics, a ____ __ ______ must be crossed before the disease will express itself with a lower threshold implying less disease causing factors are required for the disease itself to be present.
Threshold of Liability
Chromosomes pairs are generally considered _____ with 22 out of 23 pairs being identical, while the remaining pair is termed the ____ ____ which for females consist of two ____ while males receive an ____ and ____ pair.
- homologous, 2. Sex Chromosome, 3. X’s, 4. X, 5. Y
____ facilitates transcrition and translation of proteins.
RNA (ribonucleic acid)
The ____ or the composition of genes at a locus is different from the _____ which is the result of the gene and environment it is expressed in.
- genotype, 2. phenotype
______ are positively charged proteins bound to chromosomes that are wound to negatively charged ___ molecules
- Histones, 2. DNA
_________ can occur when alleles cross over and form new combinations during replication and are transmitted to the offspring.
recombination
______ is loosely defined as modifications that while not encoded by DNA sequence, are transmitted by somatic cell division (mitotic inheritance) and when gametes are produced (germline inheritance)
Epigenetics
Cells that contain correct amounts of chromosomes are referred to as ____ ____
Euploid cells
A locus containing two or more alleles is known as a _____
Polymorphism
_____ _______ are termed for the highly condensed chromatin bodies that cause the inactivation of X chromosomes and will always leave one X chromosome activate despite the possible amount of X chromosomes expressed.
Barr bodies
During DNA replication, while the two strands split apart, the leading strand will often be synthesized continuously by ____ ________, while the slower strand will initially be synthesized by an ___ _____ and later extended by DNA to form an _____ ______
- DNA polymerase, 2. RNA primer, 3. Okazaki fragment.
Some genes found responsible for the development of breast cancer include ____ and _____ which can be found on chromosomes __ and __ respectively.
- BRCA1, 2. BRCA2, 3. 17, 4. 13
The karotype 45, X or _____ _____ only occurs in _____ and can cause issues such as genitalia abnormalities.
- Turner’s Syndrome, 2. Females
When evaluating diseases occuring in families, the _____ is assessed primarily due to it being the ____ affected individual of the family.
- Proband, 2. First
When discussing oncogenetics (cancer), one important gene discussed is the ___ gene where it is classified as a tumor supressor gene that can initiate pathways to repair or destroy cells based upon whether the DNA is damaged or not.
P53 (Angel Gene)
when comparing bases, DNA and RNA differ where DNA contains thymine and RNA instead contains ______
Uracil
_____ and_____ pairings are considered _____ ____ ____ or are highly susceptible to mutations
- cytosine, 2. guanine, 3. mutational hot spots
In order to end a gene strand, a ____ or ____ ____ is utilized and there are a total of ___
- stop, 2. nonsense codons, 3. 3
The ____ __ _________ states that homlogous genes separate during reporduction and each cell created only carry one copy of the gene.
Principle of Segragation
____ are the DNA sequences containing genes that code for a pathway of enzymes when the body requires specific proteins/final products that is sequential.
Operon
Humans carry approximately _______ to _______ genes
- 20,000, 2. 25,000
When thinking of potential mitochondrial diseases, _____ and ___ cells are thought to be most likely affected due to their high energy requirements.
1, muscle, 2. brain
DNA is held together by a weak ____ bond with bases ____ and ____ pairing together and the other bases ____ and ____ pairing together respectively.
- Hydrogen, 2. adenine, 3. thymine, 4. guanine, 5. cytosine
When assessing traits shared between twins, they are considered to be ____ if they do share it and ____ if not.
- Concordant, 2. Discordant
_______ ____ is a condition seen in Beckwith-Wiedemann Syndrome where the father’s copy of chromosome 11 is overexpressed or the mother’s chromosome is lost in imprinting, leading to a double copy of the IGF2 gene.
Uniparental Disomy
Gametes are described as ____ cells or containing one pair of chromosomes (23), while Somatic cells are known as ____ cells or containing two pairs of chromosomes (46)
- Haploid, 2. Diploid
when describing traits/genes of a chromosome, the position a gene takes on the chromosome is called the ____ and depending on the gene itself it can take an alternate form or an _____ that may alter certain body functions during development.
- Locus, 2. Allele
Human cells can be classified into two categories: _____ (which contains sperm and egg cells) and _______ _____ (Which refer to the rest of the body cells).
- gametes, 2. somatic cells
DNA is composed of four nitrogenous bases, which include:
- adenine, 2. cytosine, 3. guanine, 4. thymine
_____ facilitates the reproduction of gametes while _____ and ______ involves the replication somatic cells.
- Meiosis, 2. Mitosis, 3. cytokinesis
______ ___ occur when cells contain too many sets of chromosomes resulting in conditions such as triploidy or tetraploidy cells leading to aborted cells.
polyploidy cells
In cases of cancer cell replication, they may contain high amounts of _____ or enzymes that prevent the normal shortening of chromosome at the tip or the ______
- telomerase, 2. telomere
Genes are comprised of ______ and _____
- DNA (deoxyribonucleic acid), 2. Proteins
________ is the study of chemicals that instruct genes indirectly where and when they are expressed within the cell.
Epigenomics
____ enzymes assist DNA replication by allowing it to _____ and _____
- Helicase, 2. uncoil, 3. unpair
A _____ is any inherited alteration of genetic material.
mutation
One method of identifying DNA bound proteins is accomplished through _______ _____________
Chromatin Immunoprecipitation (ChIP)
In comparison to euploid cells, _____ cells are defined as not containing multiple chromosomes and in some cases may contain multiple copies or less of one chromosome pair (e.g. Trisomy contains three copies of one chromosome wthin a cell, or a monosomy may only contain one copy of a chromosome in a diploid cell)
Aneuploid
Alzheimer’s Disease is thought to be caused by an accumulation of _____ _ ____ ____ and is normally controlled by genes _____ _ and ______ _
- Amyloid-B precursor protein (APP), 2. presenilin 1(PS1), 3. presenilin 2 (PS2)
The _____ ____ describes the number of new cases/diseases reported within a span of time, vs. _____ which describes the proportion of a population of people currently affected by a disease
- Incidence rate, 2. prevalence
_____ is the process in which RNA is synthesized from DNA. This process begins with the ____ ____ enzyme which binds to a promoter site on the DNA.
- Transcription. 2, RNA polymerase
In some cases, while a zygote may be able to survive with a aneuploidy of a _ chromosome, it will not survive however if lacking an ___ chromosome or may be seriously diminished in effect if inactivated.
- Y, 2. X
To explain the phenomenon of males and females having the same amount of coded genes from the X chromosome, the idea of ___ _______ was proposed and is thought to explain why despite females having an additional X chromosome compared to males.
X Inactivation
When chromosomes pair during meiosis, it is possible for allele combinations to ____ _____ or to combine new combinations of alleles based on the initial intertwining pairs.
cross over
The ____ ____ refers to the point in cell division where chromosomes become shortened to the point where they can no longer be read by replicating enzymes.
Hayflick Limit
The _____ is the percentage of people with a specific genotype that also express the expected phenotype.
Penetrance
A _____ _____ will occur once transcription is complete to end the process
Termination Sequence
_____ specify amino acids via triplets of bases for a total of ____ possible combinations.
- Codons, 2. 64
A genetic condition prevalent in males involves the addition of at least two ____ and a Y chromosome that results in a condition called _____ _____ that cause cause abnormalities such as development of breasts, extended limbs, and decreased mental capabilities.
- X, 2. Klinefelter’s Syndrome
The three common chromosomes affected by aneuploidy but still can produce live births include chromosomes ___, ___ and ____ (the last one being an example of someone who may develop down syndrome)
- 13, 2. 18, 3. 21
_____ enables sperm to achieve high compaction and hydrodynamics which overall improves movement. They also are derived from ______
- Protamines, 2. Histones
When ____ ____ is present in the human leukocyte antigen, it is understood that having this amino acid significantly reduces the chance of someone developing Type 1 Diabetes.
aspartic acid
The interchanging of genetic material between two non homologus chromosomes along with fusion of the long arms is known as _____ the most common type of this is called _____ ______
- Translocation. 2. Robertsonian Translocation
