Shared Flashcard Set

Details

Genetics Exam 4
N/A
170
Other
Undergraduate 3
11/13/2011

Additional Other Flashcards

 


 

Cards

Term
chromosome territory
Definition
the area within the nucleus that the chromosome is located
Term
 Interchromosomal domain
Definition
the area in between the chromosome
Term
Chromatin remoldeling
Definition
rearrangement of your DNA in association with the histone protein
Term
gene silencing
Definition

When the DNA or genes is tightly wrapped inside the histone protein  (no expression).

Term
histone H2A
Definition
pro-dominant type of histone
Term
H2A.Z
Definition
histone that is used for loosening.  During the rearrangement of the chromatin, H2A.Z is placed on the sides of the DNA that is being transcribed (sort of like a book mark.)
Term
acetylation
Definition
the addition or removal of acetyl groups directly from the histone protein
Term
histone acetyltransferase (HATs)
Definition
the enzyme that helps acetylation. it also adds an acetyl group
Term
Activators
Definition
HATs are recruited by these
Term
histone deacetylases (HDACs)
Definition
this enzyme removes acetyl goups
Term
repressor
Definition
this plus co-repressor udergoes allosteric change. this also binds toto your RPBs site. one it binds it recruits HDACs
Term
insulator elements
Definition
segments of DNA which are attached to a small section of the histone protein. This also prevents chromatin remolding (which ultimately prevents loosening of DNA.)
Term
CCCTC-binding factor (CTCF)
Definition
The only insulator element that we know in vertebrates
Term
Enzymatic phosphorylation
Definition
the addition of a phosphate group loosens the DNA
Term
Enzymatic methylation
Definition
the addition of a methyl group, tightens DNA transcription down
Term
histone code
Definition
the alternations either by adding phosphate or adding methyl
Term
SWI/SNF complex
Definition
The only complex we know of at the time is in single celled fungi
Term
transcriptional factories
Definition

another way that transcriptional is being controlled by the eukaryotic. these are the specific location inside the nucleus where most of the polymerase can be found.

Term
DNA methylation (-CH3)
Definition

the direct methylation on the DNA itself. Methylation in this case, shuts a segment of the DNA off. Methylation usually occurs in our cytosine on position 5.

Term
barr body
Definition

(a dormant X). One X is active while the other X is sleeping.

Term
Totipotent
Definition
means the cell is an embryonic stem cell and it can become anything it wants to be. This means it is not methylated
Term
unipotent
Definition
where it is specialized to become one particular type of cell. this is after totipotent
Term
5- azacytidine
Definition

a cysteine analog of a specific area of DNA in particular the CpG islands.

Term
Euploid
Definition
a normal chromosome count
Term
Disomy
Definition
is a normal person with a full set of chromosomes (2N)
Term
Aneuploidy
Definition
the loss or gain of one or a few chromosomes
Term
monosomy
Definition
loss of one chromosome
Term
trisomy
Definition
gain of a chromosome
Term
Tetraploid (4N)
Definition
92 chromosomes
Term
Autopolyploidy
Definition
is multiple of the same genome
Term
Allopolyploidy
Definition

is multiple genomes from different species.

Term
karyotype
Definition
picture of homologous chromosome in metaphase
Term
Phytohemagglutinin (lectin)
Definition
triggers mitosis
Term
colchicine
Definition
stops mitosis
Term
chorionic villus sampling
Definition
taking a piece of the placenta or the fetus
Term
non-dysjunction
Definition

one of the causes of allopolyploidy. this occurs in anaphase II of meiosis. Monsomy  and trisomy are both resulting from this condition

Term
n+1
Definition
this means trisomy
Term
2N-1
Definition
monosomy
Term
dosage
Definition

the necessary genes or chromosomes that create a viable offspring since your N -1 do not have enough dosage.

Term
Turner Syndrome (XO)
Definition
me a person only has one X chromosome
Term
sexual infantilism
Definition
underdeveloped sex organs
Term
Cubitus valgus
Definition
people have a lot of joint problems (elbows are curved)
Term
coarctation of the aorta
Definition
narrowing of their aorta
Term
Lymphedema
Definition
a buildup of lymphatic fluids
Term
mosaic
Definition
means parts of their bodies are turner
Term
(45X/46XYand 45X/46XX)
Definition
turner syndrome count when it is mosaic
Term
Monosomy – 7 (45 XX or XY – 7)
Definition
is autosome and is missing the number 7 chromosome
Term
de nova myelodysplatic disorder (MDS)
Definition
pre-lukemia
Term
Hemotopoisis
Definition
blood cell formation
Term
dysmyelopoisis
Definition
comes before hemotopoisis
Term
dysplasia
Definition
an abnormal development blood cells
Term
Dyserythropoiesis
Definition
abnormal red blood cells
Term
Dysmyelopoiesis
Definition
abnormal white blood cells
Term
Dysmegakaryocytopoiesis
Definition
malfunctioning development of megakaryocytes
Term
acute nonlymphocytic leukemia (ANILL)
Definition
this signifies all myeloblast as well as monoblast. a condition where the leukocytes with the exception of lymphocytes do not completely mature
Term
Kleinfelter syndrome
Definition
condition caused by sex chromosome nondisjunction
Term
47 XXY to 49 XXXXY
Definition
kleinfelters chromosome count
Term
gynecomastia
Definition

under developed mammary gland as the female secondary characteristic.

Term
Trisomy X (47 XXX; Triplo – X)
Definition
these individuals are female (metafemale). they have no phenotypic characteristics
Term
criminal gene
Definition
another word for Jacob's syndrome
Term
Jacob's syndrome
Definition
This condition was used as a successful criminal defense for Richard Specks, by his attorney for murdering 8 women
Term
Down’s Syndrome (47 XX, XY+21)
Definition
this type of down syndrome is also referred to as trisomy 21
Term
mongolism
Definition
resemblance of this condition to people of Asian descent
Term
epicathic folds
Definition
thick eyelids
Term
brushfield spots
Definition
little halo
Term
microcephaly
Definition
vey small head
Term
Polydectyly
Definition
more than 5 fingers
Term
poldectly chromesome
Definition
7 or 13
Term
ventricular system
Definition
has holes in it, which they are 3 ½ chambered
Term
simian crease
Definition
straight palm print
Term
monozygotic twins
Definition
identical twins
Term
dizygotic twin
Definition
discordance
Term
familial down syndrome
Definition
second type of Down syndrome which is a sub type of robertsonian translocation
Term
Patau syndrome (47 XX, XY+13 or trisomy 13)
Definition
this syndrome deals with a lot of central nervous system defects
Term
Holoprosencephaly
Definition
marked by the brain, the right and left hemisphere fail to separate
Term
Coloboma
Definition
split in eyes
Term
Hypotonia
Definition
weak muscle tone
Term
Edward’s Syndrome (47 XX, XY+18 or trisomy 18)
Definition
trisomy 18
Term
hypertonia
Definition
increase in muscle tone
Term
preferential survival
Definition
80% percent of the survivors, for 2 months, are females
Term
Translocation
Definition
a segment of chromosome is relocated to another chromosome, from one non-homologous chromosome to another non-homologous chromosome
Term
reciprocal translocation
Definition
is an exchange of segments between two non-homologous chromosomes but the exchange is even
Term
recipricol translocation
Definition
occurs in prophase I
Term
semisterile
Definition
offsprings do not survive
Term
robertsonian translocation
Definition

this occurs between two non-homologous chromosomes.

This where the p and q arms of these non-homologous chromosomes split apart at the centromere.

Term
acentric fragments
Definition
The p arms don’t have a centromere. they are called this when they do not have a centromere
Term
centric fusion
Definition
The ones that have centromere sticks together
Term
metacentric chromosome
Definition
through centric fusion they form what is known as
Term
familial chromosomes
Definition
14 and 21
Term
DG translocation
Definition
This is when majority of the 21 chromosome (which is part of the “G” group) is translocated to the “D” group chromosome
Term
Deletion
Definition
the loss of a piece of the chromosome (failure to cross over). also occurs in prophase I
Term
terminal deletion
Definition
when a piece of the chromosome from the end or the other end (p arm or q arm) is gone
Term
Intercalary deletion
Definition
is inside, away from the ends by middle which is gone
Term
segmental deletion
Definition

how scientist describe a tiny little piece of chromosome at the terminal end disappears.

Term
Cri du Chat syndrome (deletion 5p syndrome; 46 5p-)
Definition
an example of deletion that means "cries like a cat"
Term
TERT
Definition
The area where the 5 chromosome p arm is missing that codes for this
Term
telomerase reverse transcriptase enzyme
Definition
TERT
Term
Wolf – Hirschhorn Syndrome (4p – deletion)
Definition
is a rare genetic disorder. The p arm is gone (number 4 chromosome)
Term
epilepsy
Definition
uncontrollable seizures
Term
ptosis
Definition
droopy eyelids
Term
colobomas
Definition
split in eyes
Term
Hyposadias
Definition
the urethra opening is at the bottom of the penis
Term
Cryptorchidism
Definition
balls failed to desecend
Term
DiGeorge syndrome or 46 XX XY (22q11.2) deletion syndrome (Chromosome 22
Definition
occurs 1 out of 4000 births
Term
congential heart defect (deformities or disease) – CHD
Definition
series of problems that digeorge can result from
Term
hypoplasia
Definition
deformation of the heart
Term
ischemia
Definition
tissue damage
Term
Aortic valve stenosis
Definition
narrowing of the aorta
Term
Aortic valve stenosis
Definition
narrowing of the aorta
Term
Atrial septal stenosis
Definition
(the muscular wall that separates the right atrium from the left atrium
Term
foramen ovule
Definition
the hole
Term
fossa ovialis
Definition
hole is sealed
Term
Atrioventricular septal defect (AVSD)
Definition
holes between the right and left ventricle
Term
Pulmonary stenosis
Definition
obstruction of blood flow from the right ventricle into the pulmonary trunk and thereby into pulmonary artery
Term
pulmonary artery stenosis
Definition
has two sub types
Term
pulmonary valve stenosis
Definition
semi – lunar valve of the pulmonary trunk is defected thereby obstructing blood flow)
Term
subvalvular
Definition
before the valve
Term
supravalvular
Definition
after the valve
Term
Aortic valve stenosis
Definition
narrowing of the aorta
Term
Hypoplastic thymus
Definition
underdeveloped thymus
Term
T – lymphocytes
Definition
hypoplastic thymus is where these are matured
Term
helper T cells
Definition
the most numerous T – lymphocytes in your body
Term
macrophage migration inhibiting factor
Definition
causes chemotaxins of microphage to an area of infection and keeps the microphage there
Term
cytotoxic T cells
Definition
(hunter killers or natural killer cells)
Term
suppressor T cells (regulatory T cells)
Definition
help bring the immune system back to homeostasis
Term
Memory T cells
Definition
dealing with secondary immune response
Term
Y δ T cell
Definition
goes after cancer cells
Term
phospoantigens
Definition
Y and T cells go after this
Term
hypocalcaemia
Definition
low calcium
Term
Autoimmune hypoparathyroidism
Definition
a condition that can result from DiGeorge. This is when your body develops antigens against your own under developed thyroid gland
Term
dyspagia
Definition
trouble swallowing
Term
bronchospasm
Definition
comes before dyspagia
Term
Paresthesis
Definition
the tingling of your fingers and toes and decreased consciousness, coma and could contribute to death
Term
mammillary bodies
Definition

(base on the brain)

Term
Idiopathic thrombocytopenia purpura (ITP)
Definition

when the body starts building up antibodies against your own platelet.

Term
Hashimoto’s (thyroiditis) disease
Definition
an autoimmune problem
Term
thyroglobulin
Definition
( a type of protein found in your thyroid)
Term
T3 (triiodothyamine) and T4 (thyroxin)
Definition
the two hormones from your thyroid
Term
hypothyroidism
Definition
lack of T3 and T4 being produced and circulated
Term
Spontaneous abortions
Definition
estimated that 15% of all recognizable pregnancy is this
Term
turner syndrome
Definition
18 %
Term
triploid
Definition
17%
Term
trisomy 16
Definition
16.4%
Term
tetraploid
Definition
6%
Term
trisomy 22
Definition
5.7%
Term
down syndrome
Definition
4.7%
Term
trisomy 15
Definition
4.2%
Term
trisomy 13
Definition
3.7%
Term
trisomy 18
Definition
3%
Term
translocation
Definition
tied to trisomy 18
Term
Retinoblastoma (13q14)
Definition
tumor of the retina
Term
osterocarcoma
Definition

tumor of the mesenchymal tissue.

Term
Prader – Willi syndrome (15q12)
Definition
the individual has hypertonia, progressive obesity
Term
hypogonadism
Definition
little balls
Term
Fanconi anemia
Definition
caused by excessive chromosome instability (autosomal recessive condition
Term
pancytopenia
Definition
lack of red blood cells, white blood cells and platelet
Term
hypoplasia
Definition
little thumb
Term
radial aplasia
Definition
radius is gone
Term
Bloom syndrome
Definition
Another name for fanconi anemia,  found in the Ashkenazi Jew population
Term
Chronic myelogenous leukemia -t (9p;22q)
Definition
cancer of white blood cells
Term
neoplasia
Definition
an abnormal mass of tissue
Term
Philadelphia chromosome
Definition
number 22 chromosome
Term
Small cell carcinoma (p14-23)
Definition
resulting from deletion or translocation
Term
Small cell carcinoma (p14-23)
Definition
occurs on chromosome 3
Term
Aniridia-Wilms tumor (11p15)
Definition
specific type of tumor that exists in your kidneys
Term
Trinucleotide repeats
Definition
causes fragile x chromosome
Term
fragile x syndrome
Definition
discovered in 1970s
Term
Fragile X syndrome (Martin Bell syndrome)
Definition
occurs in one and 4000 males and one and 8000 females
Term
FMR-1
Definition
the gene responsible for Fragile X syndrome (Martin Bell syndrome)
Term
trinucleotide repeats
Definition
FMR-1 gene comprises of CGG
Supporting users have an ad free experience!