Term
| An ___ is any chromosome that is not a sex chromosome. We have ___ of these total (but they are in pairs so you really only have ___ types of autosomes) |
|
Definition
|
|
Term
| A ___ is a mature haploid male or female germ cell that is able to unite with another of the opposite sex in sexual reproduction to form a zygote. |
|
Definition
|
|
Term
| Meiosis has ___ round(s) of genetic separation and cellular division while mitosis has ___ of each. In meiosis chromosomes separate leading to daughter cells that ______ genetically identical. In mitosis the daughter cells _______ identical to the parent as well as to each other. |
|
Definition
|
|
Term
| The outermost covering of a cell. It acts like a traffic policeman that regulates entry and exit of substances, that is, ions and solutes. This helps in regulating the internal cell balance. |
|
Definition
|
|
Term
| Pay particular attention to the ___ ___ which allow chemicals (ions) to move from within the cell to outside of the cell (back and forth). The most common form of deafness, ___ ___ involves a channel within the cochlea. The ___ molecules on the surface of the cell tell the body which cell is involved, the nervous system, immune system, etc. |
|
Definition
| protein channels; Connexin 26; protein |
|
|
Term
| The ___ ___ is a membranous structure that contains a network of tubules and vesicles. Its structure is such that substances can move through it and be kept in isolation from the rest of the cell until the manufacturing processes conducted within are completed. |
|
Definition
| endoplasmic reticulum (ER) |
|
|
Term
Rough and Smooth ER:
-The rough endoplasmic reticulum (RER / granular ER) contains a combination of ___ and ___. These parts of the endoplasmic reticulum contain a number of ribosomes giving it a rough appearance. Its function is to synthesize new ___.
-The smooth endoplasmic reticulum (SER / agranular ER) does not have any attached ___. Its function is to synthesize different types of ___. The smooth ER also plays a role in carbohydrate and drug ___. |
|
Definition
| proteins and enzymes; proteins; ribosomes; lipids (fats); metabolism |
|
|
Term
| The Golgi apparatus is a stacked collection of flat ___. It is closely associated with the endoplasmic reticulum in that substances produced in the ER are transported as vesicles and ___ with the Golgi apparatus. In this way, the products from the ER are stored in the Golgi apparatus and converted into ___ ___ that are necessary for the cell's various functions. |
|
Definition
| vesicles fuses; different substances |
|
|
Term
| Lysosomes are ___ that break off from the Golgi apparatus. It varies in size and function depending on the ___ of cell. Lysosomes contain enzymes that help with the ___ of nutrients in the cell and ___ ___ any cellular debris or invading microorganisms like bacteria. |
|
Definition
| vesicles; type; digestion; break down |
|
|
Term
| Mitochondria are ___ of the cell and break down nutrients to yield energy. Apart from producing its own energy, it also produces a high-energy compound called ___ which can be used as a simple energy source elsewhere. |
|
Definition
| powerhouses; ATP (adenosine triphosphate) |
|
|
Term
| The nucleus is the ___ ___ of the cell. It contains ___, collections of ___, which determines every aspect of human anatomy and physiology. The DNA which is arranged into chromosomes also contains the ___ specific for each type of cell which allows for replication of the cell. Within the nucleus is an area known as the nucleolus. It is not enclosed by a membrane but is just an accumulation of ___ and ___ within the nucleus. The nucleolus is the site where the ribosomal RNA is ___ from DNA and assembled. |
|
Definition
| master control; genes; DNA; blueprint; RNA; proteins; transcribed |
|
|
Term
| the material of which the chromosomes of organisms other than bacteria (i.e., eukaryotes) are composed. It consists of protein, RNA, and DNA. |
|
Definition
|
|
Term
| Every animal-like cell has two small organelles called centrioles. They are there to help the cell when it comes time to ___. They are put to work in both the process of ___ and the process of ___. You will usually find them near the ___ but they cannot be seen when the cell is not dividing. And what are centrioles made of? ____. |
|
Definition
| divide; mitosis; meiosis; nucleus; Microtubules |
|
|
Term
| Is a specific type of RNA that makes a copy of the genes code, then exits the nucleus and attaches to ribosomes |
|
Definition
|
|
Term
| What are the 2 laws of inheritance that Mendel discovered? |
|
Definition
| Law of Segregation and Law of Independent Assortment |
|
|
Term
| The law of ___ is when two members of a gene pair segregate from each other in the formation of gametes |
|
Definition
|
|
Term
4 main concepts of law of segregation:
1. A gene can exist in more than one ___ or ___.
2. Organisms inherit ___ allele(s) for each trait.
3. When sex cells are produced (by meiosis), allele pairs separate leaving each cell with a single allele for ___ ___.
4. When the two alleles of a pair are different, one is ___ and the other is ___. |
|
Definition
| form or allele; two; each trait; dominant; recessive |
|
|
Term
| The law of _______ is when members of a different gene pair are transmitted independently of one another during gamete production |
|
Definition
|
|
Term
| Mendel's law of independent assortment states that genes do not ___ each other with regard to the sorting of alleles into gametes: every possible combination of alleles for every gene is ___ likely to occur |
|
Definition
|
|
Term
Fay Data:
-Collected information on 4471 ___ among deaf people in the US between 1801-1894
-Data was used in the 1970's to estimate the percentage of deafness caused by ___ versus ___ factors (Nance)
-The Fay data is currently used to help to provide more accurate ___ ___ to deaf people
-Comparison of Fay data to living Gallaudet alumni helps us to understand the impact of deaf marriages on the frequency of common forms of ___. |
|
Definition
| marriages; genetic; environmental; genetic counseling; deafness |
|
|
Term
| the genetic constitution of an individual organism |
|
Definition
|
|
Term
| the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment. |
|
Definition
|
|
Term
| one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome |
|
Definition
|
|
Term
| the extent to which a particular gene or set of genes is expressed in the phenotypes of individuals carrying it, measured by the proportion of carriers showing the characteristic phenotype. |
|
Definition
|
|
Term
| having identical pairs of genes for any given pair of hereditary characteristics |
|
Definition
|
|
Term
| having dissimilar pairs of genes for any hereditary characteristic |
|
Definition
|
|
Term
| (of a cell or nucleus) containing two complete sets of chromosomes, one from each parent. |
|
Definition
|
|
Term
| (of a cell or nucleus) having a single set of unpaired chromosomes |
|
Definition
|
|
Term
| less common term for haploid. |
|
Definition
|
|
Term
| having particular genes or chromosomal regions present in extra or fewer copies than in the normal type. |
|
Definition
|
|
Term
| the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. |
|
Definition
|
|
Term
| 1) The tendency of individual genetic characteristics in a population to vary from one another. (2) The potential of a genotype to change or deviate when exposed to environmental or genetic factors. |
|
Definition
|
|
Term
| ___ is a protein that forms a gap junction, a channel that permits ions and small molecules to move between adjacent cells. These are important to intercellular communication. |
|
Definition
|
|
Term
Connexin:
-__-__% of profound deafness in the US
-Incidence ___ among populations
-___ in most cases
-___ phenotype
-35delG: ___% of mutation in Caucasians
-___ common in Jewish; ___ in Asians
-Member of a family of___ ___ proteins
-LOCUS: ____-long arm of chromosome 13
-GENE: ___; ___ (gap junction beta 2)
-PROTEIN: connexin 26, ___
-MUTATION: 35delG, 342-Kb del, etc |
|
Definition
| 30-40; varies; Recessive; Variable; 70; 167delT; 235delC; gap junction; DFNB1; GJB2; GJB6; 30 |
|
|
Term
| Deafness at the DFNB1 locus is secondary to mutations in ___ and/or ___, which encode the proteins connexin 26 and con- nexin 30, respectively, and accounts for ___% of autosomal recessive nonsyndromic hearing loss. The carrier rate for the general U.S. population of northern European descent for a recessive deafness-causing GJB2 mutation is approximately __ in ___. |
|
Definition
| GJB2 and/or GJB6; 50; 1 in 33 |
|
|
Term
| About ___% of people with Connexin 26 or 30 have vestibular issues |
|
Definition
|
|
Term
| ___ ___ is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, hearing loss and heart and blood vessel (cardiovascular) problems. |
|
Definition
|
|
Term
| How is williams syndrome inherited? |
|
Definition
| Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Can also be autosomal dominant |
|
|
Term
| What kind of HL is associated with Williams Syndrome? |
|
Definition
| mild-moderate SNHL[image] |
|
|
Term
Branchiootorenal syndrome:
-Mode of inheritance?
-what are some of the common symptoms? |
|
Definition
-autosomal dominant
-hearing loss, branchial arch anomalies (ex: preauricular pits) and renal anomalies, kidney problems |
|
|
Term
Treacher-Collins Syndrome:
-Syndromic HL autosomal ___
-Error in formation of ___ branchial arch
-Variable abnormalities of ear structure and hearing loss - ___. Occasional ___
-Downslanting eyes, lower lid ___
-Micrognathia with ___ ___ |
|
Definition
-dominant
-1st
-conductive; SNHL
-coloboma
-cleft palate |
|
|
Term
Muenke syndrome:
-Syndromic HL autosomal ___
-___ hearing loss
-Unusual ___ shape
[image] |
|
Definition
| dominant; Sensorineural; head |
|
|
Term
| What is the most common type of autosomal dominant syndromic HL? |
|
Definition
|
|
Term
Waardenburg Syndrome:
-What kind of HL?
-Characterized by changes in pigmentation of the ___, ___, and ___. Eyes are also ___ spaced and can be blue or 2 different colors. |
|
Definition
-SNHL
-hair, skin and eyes; widely |
|
|
Term
| Characterized by dual sensory impairments. Affected individuals are born with sensorineural hearing loss and early in life develop retinits pigmentosa (RP) with or without vestibular abnormalities. Recessive. |
|
Definition
|
|
Term
Most common form of syndromic hearing loss and is
characterized by congenitial severe to profound SNHL, structural defects of the temporal bone and inner ear and thyroid goiter. Autosomal recessive. |
|
Definition
|
|
Term
| Characterized by progressive postlingual sensorineural hearing loss of varying degrees, progressive merulonephritis leading to end stage renal disease and variable ophthalmologic findings. X-linked |
|
Definition
|
|
Term
| Frequency of environmental causes of deafness at birth = about ___% |
|
Definition
|
|
Term
| The study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself. Change in phenotype and not genotype |
|
Definition
|
|
Term
| Why do epigenetics matter? |
|
Definition
| we know that ENVIRONMENTAL factors can affect gene expression and can be INHERITED but not through DNA. |
|
|
Term
| Epigenetics, as a simplified definition, is the study of biological mechanisms that will switch genes __ and ___ |
|
Definition
|
|
Term
| How does epigenetics relate to hearing loss? |
|
Definition
| Because of epigenetics some people are more predisposed to NIHL, ototoxicity, vestibular migraines, etc. |
|
|
