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
