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Biochem Week 3
Genetics continued...
99
Chemistry
Professional
01/25/2009

Additional Chemistry Flashcards

 


 

Cards

Term

15,000

Autosome

Definition
About _____(#) human diseases are known to cocur from changes in a single gene on an ________.
Term

single

osteopenia

5/100,000

5/100,000

dominant

I

COL1A1

COL1A2

Definition
Osteogenesis Imperfecta is a ______ gene disorder that characteristically shows a decrease in bone mass known as __________.  The frequency of this disease is ________, and the carrier frequency is __________.   It is an autosomal _______ disorder of type _ procollagen.  The mutated genes are ______ and ______.
Term
50
Definition
The recurrance risk of osteogenesis imperfecta is __%.
Term

recessive

CFTR

1/3000

1/27

25%

chloride

Definition
Cystic fibrosis is an autosomal _________ disorder involving the mutation of the ____ gene on chromosome 7.  The prevalence is ______ in caucasions and the carrier frequency is ____.  The recurrence rick is __%.  The ________ ion transporter defect produces over-thick mucus.
Term

Autosomes

locus

Definition
_________ are non-sex-linked chromosomes and occur in pairs.  A single gene occurs at a specific _____ on a chromosome.
Term
monogenic
Definition
A mendelian trait= a _________ trait.
Term
alleles
Definition
Members of a gene pair that are not identical are _______.
Term
independent assortment
Definition
___________ __________ means that genes at different loci are transmitted independently.
Term
1/200
Definition
_____ individuals are affected by some dominant disease, however each specific disease is rare. 
Term

heterozygotes

50%

independent

Definition
Inheritance of an autosomal dominant disorder usually affects ____________.  __% of children will be affected and the risk is ___________ of gender of the child.
Term
TRUE
Definition

True or False?

 

Tather to son transmission occurs in autosomal dominant disorcers and in autosomal recessive disorders. 

Term

50%

25%

Definition
The recurrence risk of an autosomal dominant disorder is __% and the recurrance risk of an autosomal recessive disorder is __%.
Term

recessive

dominant

Definition
Generations are usually skipped in autosomal _________ disorders and they are not usually skipped in autosomal ________ disorders.
Term

1/25

1/50

heterozygotes

Definition
Carriers of autosomal recessive diseases are frequent commonly ____ to ____, and these diseases are normally inherited by progeny of two _____________. 
Term
Consanguinity
Definition
_____________ greatly increases the risk of recessive diseases.
Term

Product (multiply)

Sum (addition)

Definition
The probability that two independt events will BOTH occur is the ___ of the individual probablities.  The probability that one or the other of two independent events will occur is the ___ of the individual probablities.
Term

phenotype

gene frequency

genotype frequency

Definition
_________ is the physical manifestation of a certain genotype influenced by environmental factors.  ____ _____ is the probability of occurence of a specific allele in the population (A or a).  ____ ____ is the probablity of each genotype in population (AA, Aa, aa, etc...). 
Term

homozygote (p^2 or q^2)

 

Hardy Weinburg

p^2 + 2pq + q^2=1

 

p (dominant), q (recessive)

Definition
The frequency of a gene allele is the square root of the __________ frequency.
Term

2%

 

q=(1/2500)^1/2

q=1/50 (2%)

 

4%

q + q= 1/25

Definition
If the frequency of CF is 1/2500, then of all the CFTR genes in the caucasion population _% are a mutated form causing CF.  Thus, the frequency of CF carrier genotype, Aa or aA is _%.
Term

Germline

Somatic

Alleles

Definition
________ cell mutation are heritable while _______ cell mutation can cause cancer, but are not inherited.  Copies of a gene on each of the two homologous chromosomes are called _______.
Term
polymorphic
Definition
A locus is ____________ if many alleles are represented at greater than 1% frequency in the population.
Term

1- over-expression of a gene product

2- expression of gene product in an inappropriate (non-producing) cell context

3- expression of a gene with an altered fxn

 

Dominant

Definition

Gain of function mutation can cause 3 things:

 

These gain of function mutation typically produce ________ disorders. 

Term

active protein

Homozygotes

heterozygote

 

Definition
Loss of function mutations prevent the production of ______ _______.  __________ lack any normal gene product, hence are more strongly affected than any ____________ for both recessive and dominant disorders.
Term

recessive

Pseudo-dominant

haploinsufficiency

Definition
A mutation is _________ when there is no detectable pathological effect of the activity loss or of the presence of the mutant protein.  ______-________ mutations result when insufficient normal product (activity) is present for non-pathological fxn.  This effect is known as ______________.
Term

negative

inhibits

multi-protein-complex

Osteogenesis imperfecta

 

Definition
Dominant ________ mutations result when the mutant protein ________ the function of the normal protein.  These usually affect a protein in a _____-______ _______.  An example is __________ _______, which results fromt he mutation in one collagen I chain that cause abnormally assembled collagen triple helices.
Term

Homozygotes

heterozygotes

gene dosage

Achondroplasia

Definition
___________ of autosomal dominant diseases are often more affected than _____________ due to increased _____ _______. An example of this is ______________.
Term

dominant

gene dosage

spontaneous

FGFR3 (fibroblast growth factor recepter)

 

Definition
Achondroplasia is an autosomal _______ disorder where the heterosygote is less affected that the homozygote due to lower ____ ______.  7 or 8 achondroplasia cases arise from ___________ mutations leading to constitutive activation of the _____ which restrains chondrocyte proliferation and causes skeletal abnormalities.
Term

enzymes

carriers

transporters

Definition
Recessive mutations are usually negative and affect proteins that act in series (alone), 3 examples of these proteins:
Term

1- signaling system components

2- componenets of other cascade processes (clotting...)

3- structural proteins

4- proteins in multi-protein complexes, including transcription factors.

Definition

Dominant mutations are positive or negative and usually affect proteins that act in concert with other proteins such as? (4)

Term

1- variable expression

2- pleiotropy

3- variable penetrance

4- germ cell mosaicism

Definition
Multi-organ effects are referred to as:  (4)
Term

Pleiotropy

lungs

pancreas

digestive system

sperm production

Definition
CF exhibits __________ because a single mutant gene has pathological effects of multiple parts of the body:  _____, ________, _________, and _____ __________.
Term
deltaF508
Definition
The most common cause of CF is a mutation in the _____ gene, and this particular form of CF leads to severe pancreatic insufficiency. 
Term

Marfan

arachnodactyly

dominant

variable

10-30

FBN1 (fibrillin-1)

550

Definition
______ syndrome is another pleiotropic disease that is chacacterized by long, thin extremities with loose joints and ______________.  This is an autosomal ________ with ________ penetrance.  The prevalene is __-__ per 100,000 and these are within racial and ethnic groups.  This disease is a result of a mutation of the ____ gene, and over ___ different mutations have been identified. 
Term
negative
Definition
Dominant _________ mutations disrupt the function of the remaining normal protein. 
Term
Neurofibromatosis
Definition
This disease has variable espression than can result in pigmented skin lesions, inheritance is autosomal dominant, and the prevalence is 25/100,000. 
Term

penetrance

dominant

1/20,000

40%

60%

Definition
Retinoblastoma exhibits reduced __________, meaning that not all individuals who inherit are afected.  It is an autosomal ________ and it's prevalence is _______.  __% of cases are inherited and __% of cases are spontaneous.
Term
mutation
Definition
Reduced penetrance occurs because of the "two-hit" mechanism, meaning a second ________ is required to express disease. 
Term

NF1

neurofibromin

ras GTPase

Definition
In a patient with neurofibromatosis, you know that the mutation is in the ___ gene on chromosome 17.  This gene encodes a tumor suppressor called _____________.  Under normal circumstances, this tumor suppressor modulates signaling in the ___ ______ pathway. 
Term

Rb

pRb

E2F TF (transcription factor)

CDKs.

Definition
Retinoblastoma is causes by a mutation of the __ gene on chromosome 13.  The protein encoded in this gene ___ is a tumor suppressor that inhibits ___ __, which is required for cell division and is activated by ____. 
Term

Anticipation

triplet

dominant

Definition
___________ describes an increased severity in successive generations.  In muscular dystrophy this is related to increasing _______ repeat size in successive generations.  This type of MD and it is inherited in an autosomal ________ fashion.
Term

germline

dominant

low

Definition
Spontaneous (new) mutations are usually ________ mutation and are a common source of autosomal ________ traits.  Examples are achondroplasia (7 of 8 cases) and neurofibromatosis(30-50% of cases).  The recurrence risk is ______(Low? High?).
Term

Neurofibromatosis

Osteogenesis imperfecta

Definition

Classic cases of variable expression and locus heterogeneity include:  (2)

 

These types of diseases reduce natural selection against the disease.

Term

CF

MFS

Definition
Two classic cases of Pleiotropy are? 
Term
age-dependent
Definition

Familial alzheimer's and inherited cancers are examples of ___-_________ penetrance, and onset is delayed into adulthood. 

Term
Anticipation
Definition
_________ with repeat expansion is pressent when the severity of the disorder increases in younger generation. 
Term
Germline Mosaicism
Definition
________ _________ may be present when 2 children are affected without family history. 
Term

random

mosaics

maternally

paternally

Definition
X-inactivation is ______, hence females are _______, half of cells X-chromosomes are ___________ derived, and half are __________ derived.  So...if one X is diseased...50% of cells will be affected. 
Term

epigenetic

Chromatin

epigenetic

Xist

 

Definition

X-inactivation is fixed in a cell ine and is _________, innactivation affects _________ structure, not DNA sequence, hence it is _______ (same as first blank).  Inactivation involves a special RNA, ____ RNA, expressed by the chromosome to be inactivated.

 

 

Term
7-10
Definition
X-inactivation occurs early in development:  _=_ days after fertilization. 
Term

Turner syndrome (no X-inactivation b/c only one X)

Klinefelter syndrom (XXY)

X-trisomy (XXX)

 

Definition
Three examples of X-inactivation in Chromosome disorders?
Term

Female

bias

 

Definition

______ carriers are normally unaffected by X-linked recessive disorders.  Some are affected however when there is ____ in X-inactivation.

Term
normal
Definition
A preponderance of X-inactivation of the X-chromosome carrying the ______ allele will increase the dosage of the disease allele.
Term

male

mother

Definition
X-linked recessive inheritance predominantly affects ____ progeny.  THis progeny inherit the disease genes from their mother or father?
Term

50%

50%

Definition
Generations are often skipped in X-linked recessive disorders because __% of females in an inheritance line are carriers and __% of males inherit the disease allele.
Term

male

daughters

heterozygote

Definition
In X-linked recessive inheritance, _____progeny of an affected father are not affected, but all _________ are carriers.  Daughters of an affected father if the mother is a ____________ for the disease.
Term

VIII

X

Definition
Factor ___ is an antihemophilic facor that is deficient in Hemophilia A.  This factor regulares the activation of factor __ by proteases generated in the intrinsic coagulation pathway. 
Term

dominant

affected

50%

Definition
Male-to-Male transmission is not seen in X-linked ________ inheritance.  Daughters of affected fathers will always be ________.  __% of sons and daughters of affected mothers are affected.
Term

females

males

Definition

Twice as many ____ are affected as ____ in the whole population of X-linked dominant inheritance.

Term
Sherman
Definition

The _______ paradox:

 

Daughters of normal transmitting males (NTM) are not affected, BUT unaffected daughters of NTMs often produce affected sons (grandsons of NTM)

Term

trisomy

15

Increased

Reduced

Definition

In complete X-inactivation causes disease (_______ disorders).  About __% of genes remain active in 'inactive' X-chromosome, and an extra X chromosome causes increased dosage of these active genes.  _________ gene dosage accounts for pathologies of Kilinefelter and XXX trisomy syndromes.  _______ gene dosage accounts for pathologies of Turner's Syndroms. 

Term
Maternally
Definition
Mitochondrial diseases are rare and __________ derived. 
Term

recessive

dominant

Definition
Most __________ disorders are loss of function mutations while gain of function mutation usually produce ________ disorders. 
Term

1-point mutations (single base change)

2- insertions and deletions (also called frameshift mutations)

3- Triplet repeat expansion (a form of microsatellite expansion)

4- gene rearrangements

Definition
There are four main types of mutations commonly associated with single gene disorders:
Term

transitions

transversions

missense

nonsense

Definition

Point mutations can result in:

1________ (pu-->pu or pyr-->pyr)

2_______ (pu<-->pyr)

3________(amino acid change)

4_________(STOP codon)

Term

mutations

 

1-most DNA damage is random

2- most DNA damage is repaired

3-Most DNA repair is random

Definition

Cancer is a multi-factorial disease because multiple ________ are required to express the disease. 

 

Cancer is statistical because:  (3)

Term

1- recombination (unequal crossover)

2- DNA sequence transposition

3-DNA sequence expansion

4- Insertion of foreign DNA

Definition

Large-scale genome changes can occur by four mechanisms: 

Term

1- replicaiton errors

2- spontaneous base changes

3- damaged bases

4- errors in repair

Definition
Small scale genome changes can occur by four mechanisms:
Term

chromosome abnormalities

crossover events

gene conversion

transposition

viral gene integration

sequence expansion

Definition

Types of Gene rearrangements include: (6)

Term

all

parent's

 

spontaneously

meiosis

may not

(depending on the spread of the mutation in the germ line)

Definition

Gene rearrangements are that are present in ___ cells are inherited and they occured in the ____ germ line.  All children will be at equal risk if if germ line rearrangements are inherited. 

 

Germ line rearrangements may also arise _________ in the germ line of one parent, most commonly during ______.  All children (may/may not?) by at equal risk?

Term

spontaneous

 

transformation

inherited

Definition

Somatic gene rearrangements are ________. 

 

Viral gene integration may cause cell _________ contributing to cancer.  These genes are not generally __________. 

Term

Gene duplication

mobile element

Definition
Three main types of gene rearrangement by expantion include ____ ________ which causes increased gene dosage, triplet repeat expansion (huntington's), and _______ ________ insertion like SINES and Alu repeats. 
Term

homologous

loss

gain

preservation

Definition
Unequal crossover events may occur between _______, but not identical, sequences and cause gene rearrangements.  These can cause ____, ____ or ______ of function.
Term

somatic

tumor

Definition
Sister chromatid exchanges will cause gene changes in a ________ daughter cell.  These changes are propagated by additional cell divisions, possible causing _____ growth. 
Term

Integrase

Reverse transcriptase

Definition
______ is the enzyme that helps viral DNA, and DNA from the retrovirus mechanism integrate into the host DNA.  ______ ________ is the enzyme that makes the retrovirus mechanism possible.
Term

chemical

ionizing radiation

Definition
DNA damage as a result of environment can be caused by ________ carcinogens, _______ ________, UV light, and oxidizing agents.
Term

depurination

deamination

Definition
Spontaneous DNA damage may be induced by replication erros, _____ (apurinic sites) or _________ (base change; most common). 
Term
Lung
Definition
______ cancer is currently the most prevalent cancer in women.
Term
80%
Definition
__% of cancers are 'caused' strictly by environmetnal factors, and virtually all have an environmental component.
Term

2-Acetylaminofluorene

dyestuffs, pigments

Definition
Benzo[a]pyrene is a potent environmental carcinogen that is common in fossil fuels, and tobacco products.  __________ is another one that is common in fossil fuel emissions and tobacco products as well.  N-Methyl-4-aminoazobenzene however is common in _________, _________.
Term

cytochrome P450 monooxygenases

 

Hydrolase

Definition

Aromatic procarcinogens are activated to ultimate carcinogens by ___________ __ ________.  Oxigenases add oxygen to form reactive enzymes and hydroases convert epoxides to hydroxyl groups, inactivate epoxide. 

 

______ deficiency predisposes to cancer.

Term
23.1%
Definition
In 2004 Cancer was the #2 leading cause of deaths with __% of all deaths.  Heart disease was number 1 with 27.2%
Term

31%

9%

9%

6%

Definition

Estimated US cancer deaths in men: %

Lung and bronchus

prostate

colon and rectum

pancreas

 

Term

26%

15%

10%

6%

6%

Definition

Estimated US cancer deaths in women:  %

lung and bronchus

breast

colon and rectum

pancreas

ovary

 

 

Term

EVERYONE

 

men:  1/2

women 1/3

Definition
________ is at a high lifetime risk of developing cancer. 
Term

improving

lung

Definition
Survival rates are ______ for most cancers, but not for _____ cancer.
Term

Unwanted cell growth

Invasiveness

Metastatic

Definition
Three characteristics of cancer? (3)
Term

fatal

metastasis

proteases

Definition
Primary tumors are not _____- the problem is ______, where stem cells enter the organ and develop into a secondary tumor.   _____ assist escape and relocation of these cells. 
Term
angiogenic
Definition

Proteases and ______ factors are targets of cancer therapies. 

Term

CancersCancers

Lethality

greater than 1 kg

Definition
____ arise from tumors that acquire the ability to invade through surrounding normal tissue. _____ results from the ability to destroy other tissues through invasion (Avg. tumor mass at death is ____).
Term

heterogenous

 

oncogenes

tumor suppressor

Definition

Cancer is a ________ disease because there are as many tumor types as cell types in the body.

 

All tumor types result from defects in a subset of genes called ______ and _______ genes.

Term

genome

cell cycle

Definition
Cancer is a disease of the ____ causing loss of __________ control. 
Term

additional

somatic

Definition
Some single gene defects predispose to cancer, but cancer requires ________ ________ mutations.
Term

APC

Rb

Definition
Most mutated cancer genes arise spontaneously, BUT inheriting a defective "cancer gene" greatly increases the risk.  One example is the ____ gene defect in colon cancer (0.5% is inherited), and another is the ______ gene in retinoblastoma. 
Term

Loss

Heterozygosity (LOH)

Definition
Chromosome loss followed by duplication of remaining chromosome is called _____ of _______. 
Term

proliferation

mutation

Definition

Two classes of genes that are mutated in cancer:

 

Genes that control cell ______

Genes that control the rate of ______

Term

tumor suppressor (apply "brakes" to cell cycle progression or promote apoptosis)

 

oncogene (apply "accelerator" to cell growth or inhibit cell apoptosis)

 

Caretaker

 

 

Definition

Genes that control cell proliferation?

 Gatekeeper _____ _______ and _______

 

Genes that control the mutation rate?

_______ tumor suppressors

Term
rate-limiting
Definition
Mutation of the second gatekeeper allele is ___ ______ for tumor initiation in inherited cancers such as retinoblastoma. 
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