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Genetics
Genetics Finals
314
Medical
Graduate
02/23/2011

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Term
Allele
Definition
one of the different forms of a gene that can exist at a single locus
Term
Autosome
Definition
any chromosome that is not a sex chromosome
Term
Autosomal dominant
Definition
requires only one affected of the pair of genes for disease to occur (AD zygotes usually leathal)
Term
Autosomal Recessive
Definition
requires two affected homologous genes for disease to occur
Term
Balanced rearrangements
Definition
those in which there is no net loss or gain of genetic material
Term
Barr body
Definition
a densely staining mass that represents an inactivated X chromosome
Term
Carrier
Definition
an individual organism that possesses a mutant allele but does not express it in the phenotype, because of a dominant allelic partner; thus an individual of genotype A/a is a carrier of a if there is complete dominance of A over a.
Term
Chronic Villus sampling (CVS)
Definition
a placental sampling procedure for obtaining fetal tissue for chromosome and DNA analysis to assist in prenatal diagnosis of genetic disorders.
Term
Chromatid
Definition
one of the two side-by-side replicas produced by chromosome division.
Term
Chromosome
Definition
- a linear end-to-end arrangement of genes and other DNA, sometimes with associated protein and RNA
Term
Codominance
Definition
a situation in which a heterozygote shows the phenotypic effects of both alleles equally.
Term
codon
Definition
a section of DNA (three nucleotide pairs in length) that encodes a single amino acid
Term
Consanguinity
Definition
mating of blood relatives (inbreeding)
Term
Crossing over
Definition
- the exchange of corresponding chromosomes parts between homologs by breakage and reunion.
Term
Daughter cells
Definition
two identical cells formed by the asexual division of a cell.
Term
Deletion
Definition
the removal of a chromosomal segment from a chromosome set.
Term
Diploid
Definition
a cell having two chromosome sets or an individual organism having two chromosome sets in each of its cells
Term
DNA
Definition
(deoxyribonucleic acid)- a double chain of linked nucleotides; the fundamental substance of which genes are composed
Term
Dominant allele
Definition
an allele that expressed its phenotype effect even when heterozygous with a recessive allele; thus, if A is dominant over a, the A/A and A/a have
Term
Downs syndrome
Definition
an abnormal human phenotype, including mental retardation, due to a trisomy of chromosome 21; more common in babies born to older mothers
Term
Duplication
Definition
more than one copy of a particular chromosomal segment in a chromosome set.
Term
Exon
Definition
any nonintron section of the coding sequence of a gene; together, the exons correspond to the mRNA that is translated into protein
Term
Expession
Definition
the degree to which a particular genotype is expressed in the phenotype.
Term
Flourescence in situ hybridization (FISH)
Definition
in situ hybridization with the use of a probe coupled with a fluorescent molecule.
Term
Gene
Definition
the fundamental physical and functional unit of heredity, which carries information from one generation to the next; a segment of DNA composed of a transcribed region and a regulatory sequence that makes transcription possible
Term
Genome
Definition
the entire complement of genetic material in a chromosome set.
Term
Genotype
Definition
the specific allelic composition of a cell- either of the entire cell or more commonly of a certain gene or a set of genes
Term
Hemizygous
Definition
a gene present in only one copy in a diploid organism- for example, an X linked gene in a male mammal.
Term
Heterozygous
Definition
a gene pair having different alleles in the two chromosome sets of the diploid individual- for example, A/a or A1/A2.
Term
Homozygous
Definition
refers to the state of carrying a pair of identical alleles at one locus.
Term
Homozygous dominant
Definition
refers to a genotype such as A/A
Term
Homozygous recessive
Definition
refers to a genotype such as a/a
Term
Imprinting
Definition
modification of a gene as it is transmitted through either parent during meiosis
Term
Intron
Definition
a segment of largely unknown function within a gene. This segment is initially transcribed, but the transcript is not found in the functional mRNA.
Term
Klinefelters syndrome
Definition
an abnormal human male phenotype die to an extra X chromosome.
Term
Meiosis
Definition
- two successive nuclear divisions that produce gametes or sexual spores that have one-half life of the genetic material of the original cell.
Term
Mitosis
Definition
a type of nuclear division that produces two daughter nuclei identical with the parent nucleus.
Term
Mosaic
Definition
a chimer; a tissure containing two or more genetically distinct cell types or an individual organism composed of such tissue
Term
Mosaicism
Definition
the occurrence of two or more cell lines with different genetic or chromosomal constitutions. If somatic, usually results in milder (or segmental) phenotype
Term
mRNA (messenger RNA)
Definition
an RNA molecule transcribed from the DNA of a gene, a protein is translated from this RNA molecule by the action of ribosomes,
Term
mutant
Definition
an allele differing from the allele found in the standard wild-type.
Term
Nondisjunction
Definition
- the failure of homologs or sister chromatids to separate properly to opposite poles.
Term
Oncogene
Definition
a gain of function mutation that contributes to the production of a cancer
Term
Pedigree
Definition
a “family tree” drawn with standard genetic symbols showing inheritance patterns for specific phenotypic characters.
Term
Penetrance
Definition
the proportion of individuals with a specific genotype who manifest that genotype at the phenotype level.
Term
Phenotype
Definition
the form taken by some character in a specific individual. The detectable outward manifestations of a specific genotype.
Term
Point mutation
Definition
a mutation that can be mapped to a specific locus
Term
Proto-oncogene
Definition
the normal cellular counterpart of a gene that can be mutated to become a dominant oncogene.
Term
Recessive allele
Definition
- an allele whose phenotypic effect is not expressed in a heterozygote
Term
Sanger sequencing
Definition
the most popular method of DNA sequencing. It uses dideoxynucleotide triphosphates mixed with standard nucleotide triphosphates to produce a ladder of DNA stands whose synthesis is blocked at different length. This method has been incorporated into automated SNA-synthesis machines
Term
Silent mutation
Definition
a mutation that has no effect of the function of a gene product.
Term
Transcription
Definition
the synthesis of RNA from a DNA template
Term
Translation
Definition
the ribosome and tRNA mediated production of a polypeptide whose amino acid sequence is derived from the codon sequence of an mRNA molecule.
Term
Translocation
Definition
the relocation of a chromosomal segment to a different position in the genome.
Term
Trisomy
Definition
basically a diploid with an extra chromosome of one type, producing a chromosome number in the form of 2n+1
Term
Turner syndrome
Definition
an abnormal human female phenotype produced by the presence of only one X chromosome (XO).
Term
Unbalanced rearrangement
Definition
a rearrangement in which chromosomal material is gained or lost in one chromosome set.
Term
X chromosome inactivation
Definition
the process by which the genes of an X chromosome in a mammal can be completely repressed as part of the dosage-compensation mechanism.
Term
2. This federal law was passed in 2008 (effective in May/Nov 09) and prohibits genetic discrimination in all health insurance plans and employment?
Definition
GINA
Term
3. How many states have passed laws that prevent insurers from requiring a genetic test or requesting results from a previous genetic test?
Definition
At least 40
Term
What website allows you to find genetic counselors in your area?
Definition
nsgs.org
Term
This website has GeneReviews, Lab directory, clinic directory, and educational materials?
Definition
genestests.org
Term
What is found under GENEREVIEWS?
Definition
Genetic disease descriptions, current info on genetic test use in diagnosis management, genetic counseling. Links to genomic databases, pt resources, PubMed citations, policy statements/guidelines
Term
This website is known as the online mendelian inheritance in man at Johns Hopkins University?
Definition
OMIM (NCBI)
Term
This is an “organization of organizations” committed to a national effort to promote health professional education and access to information about the advances in human genetics to improve the health care of the nation?
Definition
NCHPEG
Term
This is the numer of recognized disorders
Definition
15,500
Term
How many Americans are affected with disorders?
Definition
13 million (5%)
Term
Percentage of births that involve a significant birth defects?
Definition
3-5%
Term
Percentage of infant deaths that are due to genetics disorders
Definition
20-30%
Term
Percentage of post neonatal deaths that are due to congenital malformations
Definition
30-50%
Term
Ratio of adults that have a genetics condition?
Definition
1:10
Term
What percentage of all chronic diseases such as heart conditions, cancer, diabetes, and arthritis have significant genetic component
Definition
10%
Term
What percentage of individuals with mental retardation have a genetic basis for their disability
Definition
50%
Term
What percent of pediatric hospital admissions are due to genetics disorders
Definition
11%
Term
What percent of pediatric hospital admissions are due to congenital malformations?
Definition
18.5%
Term
What percent of adult hospital admissions are for genetics causes?
Definition
12%
Term
Training and qualifications of a genetic counselor?
Definition
masters degree from accredited program, national certification, frequently credentialed by employer
Term
What states offer licensure for genetic counselors
Definition
CA, IL, UT, MA
Term
This is one of the threadlike structures in the cell nucleus that consists of chromatin and contains DNA
Definition
Chromosome
Term
What does each chromosome consist of?
Definition
Double stranded DNA (sister chromatid) coiled in a helix and attached to a protein base
Term
What is the protein base of a chromosome called?
Definition
Histone
Term
What does each strand of DNA contain?
Definition
A compliment of the same genes
Term
What are the 2 arms of the chromosome attached?
Definition
Centromere
Term
What are the short and long arms of the centromere known as?
Definition
Short=p long=q
Term
How are genes arranged?
Definition
Linear pattern along the entire length of each DNA strand
Term
When chromosomes undergo self replication what do they produce?
Definition
Chromatids
Term
What happens to these chromatids during mitosis?
Definition
They separate and each new cell receives a full set of chromosomes
Term
How many chromosome pairs are in the human genome?
Definition
23
Term
What is the makeup of the 23 pairs?
Definition
22 homologous pairs of autosomes and 1 pair of sex chromosomes
Term
Where does the one pair of sex chromosomes come from?
Definition
One member from each pair derived from each parent
Term
Normal male genes?
Definition
46, XY
Term
Normal female genes
Definition
XX
Term
Position of sex genes on the chromosome?
Definition
22q1
Term
This is the complete DNA sequence containing the entire genetic information, of a gamete, an individual, a population or specie?
Definition
Genome
Term
A hereditary unit in molecular terms a sequence of chromosomal DNA that is required for the production of a functional protein?
Definition
Gene
Term
How many genes are in the human genome?
Definition
Over 20,000
Term
Is a gene capable of self replication?
Definition
Yes, its a particular sequence of nucleotides within a DNA molecule
Term
Make sure you know what Adenlyic Acid looks like
Definition
Term
Make sure you know what adenine looks like
Definition
Term
And adenosine
Definition
Term
What is the structure of DNA?
Definition
Sugar groups on the side and bases in the middle, phopshate groups linking the sugars
Term
What is the central dogma of genetics?
Definition
Information frlow from DNA -> RNA -> Protien
Term
What is the flow from DNA to protein?
Definition
DNA transcription, RNA translation, Protein
Term
Know what Karyotype of 45 XY looks like
Definition
Term
This is the primary genetic material in all organisms composed of 2 twised polynecleotide strands
Definition
DNA
Term
This is a nucleic acid found in both the nucleus and cytoplasm of cells that transmits genetic instructions from the nucleus to the cytoplasm
Definition
RNA
Term
What is the function of RNA in the cytoplasm?
Definition
Assembly of proteins
Term
What are the 3 types of RNA?
Definition
mRNA, tRNA, and rRNA
Term
This is 85% of the total cellular RNA and is associated with ribosomes
Definition
rRNA
Term
This is 10% of the total cellular RNA and provides the essential specificity required for insertion of correct amino acid into the protein that is being synthesized
Definition
tRNA
Term
This is 5% of the total cellular RNA and acts as the carrier of genetic info from the DNA to ribosomes
Definition
mRNA
Term
What is thymine replaced by in the RNA?
Definition
Uracil
Term
These are "extra" pieces of DNA that do NOT appear in the mRNA and do NOT become part of the protein
Definition
Introns
Term
What are introns also known as?
Definition
Non-coding DNA
Term
The pieces of DNA that make up mRNA and are translated into functional proteins?
Definition
Exons
Term
The 3 bases in mRNA that specify a particular amino acid during translation
Definition
Codon
Term
What does mitosis produce?
Definition
Daughter cells identical to parent cells (2n to 2n)
Term
What is the result of meiosis?
Definition
Genetic varation by suffling of maternal and paternal chromosomes and crossing over
Term
Are the daughter cells formed during MEIOSIS genetically idential to mother or father?
Definition
NO
Term
During sexual reproduction what produces unique offspring?
Definition
Fusion of unique haploid gametes
Term
Genetic variants that change the func of a gene?
Definition
Mutation
Term
What are 2 environmental factors that contribute to mutations?
Definition
Chemicals and radiation
Term
How do mutations occur?
Definition
At random, inherited, NOT ALL are expressed
Term
Extra nucelotides
Definition
Insertions
Term
Less nuecleotides?
Definition
Deletions
Term
Deletions/insertions that are NOT a multiple of 3?
Definition
Frameshift mutation
Term
Inversion balanced or unbalanced rearrangement of chromosome
Definition
Transposition
Term
What are the 3 types of base substitutions/point mutations?
Definition
Silent, missense, nonsense
Term
Changes that nucleotide sequence but amino acid sequence remains the same?
Definition
silent
Term
Changes in the nucleotide sequence that changes the amino acid sequence
Definition
MIssense
Term
Changes in the nucleotide sequence and inserts a STOP codon
Definition
Nonsense
Term
What percentage of genes in the human cell are expressed?
Definition
3-5%
Term
Repeat sequences of DNA are being duplicated, they get misaligned and a different number of copies is the result?
Definition
Misalignment deletion
Term
Genetic constitution
Definition
Genotype
Term
Observable physical/biochemical characteristics of the expression of a gene?
Definition
Phenotype
Term
Clinical presentation of an individual with a particular genotype?
Definition
Phenotype
Term
When should you do a pedigree?
Definition
History of 3 or more miscarriages, working with a family with a poss chromosome abnormality, other family members are affected, high risk ethnic groups, consanguineous relationship
Term
This is a free tool available for download from the US dept of Health and human services?
Definition
Surgeon general family history intiative
Term
What is the patient known as in the pedigree?
Definition
The proband
Term
How are generations numbered on a pedigree?
Definition
Roman numerals
Term
How are individuals numbered?
Definition
From left to right
Term
What side of the pedigree does the paternal portion belong on?
Definition
The left
Term
What info should be marked on the pedigree?
Definition
Name, DOB, health info, age, at dx or age at onset, cause of death
Term
Requires 2 affected homologous genes for disease to occur?
Definition
Autosomal recessive disease
Term
Individuals with one normal and one mutated gene are known as?
Definition
Carriers
Term
This requires only one affected of genes for diseae to occur?
Definition
Autosomal dominant
Term
Which combo of AD is usually lethal?
Definition
Homozygotes
Term
FGFR3 mutation?
Definition
Achondoplasia
Term
THe occurrence of 2 or more cell lines with different genetic or chromosomal constitutions
Definition
Mosaicism
Term
This mutation is confined to a portion of germ cells and can be transmitted to offspring?
Definition
Germ line mosaicism
Term
This has normal and abnormal cell lines within the cells of the body, cannot be transmitted to offspring unless present in germline?
Definition
Somatic mosaicism
Term
Which form of mosaicism results in a milder/segmental phenotype?
Definition
Somatic
Term
A gene alteration that is prsent for the first time in one family member as a result of egg or sperm mutation in one?
Definition
De novo mutations
Term
What are d novo mutations common in?
Definition
AD and x-linked disorders
Term
What is linked to autosomal dominant de novo mutations in offspring?
Definition
Advanced paternal age
Term
What sex are hemizygous for all genes on the X
Definition
Males
Term
What chromosomes do sons inherit from their father?
Definition
Y
Term
What chromosome will daughters always inherit from their father?
Definition
X
Term
What are genes on the x chromosome called?
Definition
Sex or X linked
Term
The disease has Gower's maneuver, progressive myopathy, gait abnormality, and the inability to walk?
Definition
DMD
Term
What gene is associated with DMD?
Definition
Xp21.2
Term
What substance in absent or partially present in dystrophy
Definition
Dystrophin
Term
In an x-recessve affected male, what will happen to his daughters?
Definition
All daughters are affected
Term
A method for determining possible offsrping genotype/phenotype outcomes given parental genotype/phenotype
Definition
Punnett square
Term
Roughly 4x more common than recessive traits?
Definition
Dominant trait
Term
How many dominant alleles need to be present for a trait to be expressed?
Definition
One
Term
How many alleles must be present for a recessive trait to show up?
Definition
2
Term
2 different alleles in a gene pair?
Definition
Heterozygous
Term
2 identical alleles in a gene pair?
Definition
Homozygous
Term
Unbalanced chromosomes where 1 copy of a particular gene is missing?
Definition
Hemizygous
Term
Result of environmental factors acting on a predisposing genetic background
Definition
LOAD
Term
Genetic disorders dx by PE alone (based on 2/6 requirements
Definition
Achondoplasia and NF
Term
G6PD deficiency dx with what?
Definition
Enzyme assay
Term
Dx with newborn screening tests
Definition
PKU, congenital hypothyroidism, sickle cell, glactosemis
Term
Dx in prenatal screening
Definition
AFP (elevated in neural tube defects
Term
Carrier testing:
Definition
tay sachs, CF, fragile X, congenital adrenal hyperplasia, DMD
Term
Presymptomatic dx
Definition
BRCA1, BRCA2, Huntingtons
Term
How are bands numbered?
Definition
From centomeres to telomeres
Term
How are bands classified?
Definition
Position of the centomere (metacenric, submeacentric, acrocenric)
Term
Extra or missing chromosomes assoc with spontaneous abortion and birth defects
Definition
Numerical
Term
Structural chromosomes abnormalities divided into what?
Definition
Unbalanced and balanced
Term
Extra/missing chromosomes portions assoc with birth defects?
Definition
Unbalanced
Term
Misplaced chromosomes portions assoc with phenotype in carrier but coud lead to abnormalities in offspring
Definition
Balanced
Term
What causes deletion and duplications?
Definition
Breakage and unequal crossing over
Term
Deletions vs duplications which is less harmful?
Definition
Duplications
Term
Technique that uses an enzymatic procedure to syntehsize DNA chains of varying length in 4 different reactions
Definition
Sanger Sequencing
Term
What is sanger sequencing used for?
Definition
To find a mutation anywhere along a given gene (gene by gene)
Term
What is the most common sequencing tech of the lsat decade?
Definition
Sanger sequencing
Term
Mapping a gene by molecular hybridization of a cloned DNA sequence?
Definition
FISH
Term
What is FISh used in?
Definition
Microdeletions-william-syndrome (22q11.2) micro translocations-wolf hirschhorn syndrome, cancer-tumor studies
Term
Who do you refer for genetic testing?
Definition
>35 maternal age, nuchal translucency, abnormal serum marker, fetal ab on prenatal US, personal or family hx (known or suspected birth defect, genetic disorder, chromosome abnormality, family hx of mental retardation, medical condition known to affect fetal development.
Term
What is the background risk (liveborns) for congenital defects needing medical intervention
Definition
3-5%
Term
Most common birth defects?
Definition
Congenital heart, neural tube (spina bifida), cleft/lip palate
Term
Maternal age related chromosomal abnormalities
Definition
Aneuploidy
Term
What foods to avoid in pregnancy?
Definition
Raw fish (take folic acid)
Term
This can only be utilized if there is a KNOWN genetic mutation in one of the parents or of aneuploidy
Definition
PGD
Term
When would you use PGD?
Definition
Single gene disorders, anticipated chromosomes aneuploidies
Term
1st trimester screening what do you look for?
Definition
Trisomy 21 and 18
Term
2nd trimester screening?
Definition
trisomy 21, 18 and neural tube defects
Term
What are maternal serum screening used for?
Definition
Not diagnostic, gives an individual risk estimate
Term
U/S in 1st trimester?
Definition
Nuchal tranlucency
Term
U/S in 2nd trimester?
Definition
Level II US
Term
What screening is done at 10-13 weeks gestation?
Definition
Chronic villus sampling
Term
Prenatal screening >15 weeks gestation?
Definition
Amniocentesis
Term
What do screening tests accomplish?
Definition
Provide an individual risk
Term
What tests tell you for certain if the baby has a chromosome abnormality?
Definition
CVS and amniocentesis
Term
What does an increased NT tell you?
Definition
Increased risk for downs syndrome
Term
First trimester tests?
Definition
Blood tests (8-14) US (11-14)
Term
2md trimester tests?
Definition
Triple/Quad screen (15-22) Comprehensive US (18-22)
Term
What are the chances of Downs syndrome being found on a blood test?
Definition
60%, 5% screen positive
Term
Chances of downs syndrome being found on US?
Definition
70%
Term
What percentage of downs syndrom will show up on blood + US
Definition
85%
Term
2nd Trimester downs found in blood test?
Definition
65%
Term
What 2 tests def tell a woman whether her child has downs?
Definition
CVS and amnio
Term
Risk of miscarriage in CVS
Definition
1%
Term
What is the most common autosomal chromosomal syndrome?
Definition
Downs syndrome
Term
The only autosomal trisomy compatible with survival into adult life?
Definition
Down syndrome
Term
Major clinical problems of Downs?
Definition
Mental restardation, GI obstruction, congen heart defects,risk of leukemia
Term
Minor dysmorphic features of downs?
Definition
Upslanting palepbral fissures, epicanthic fold, protruding tongue, low nose bridge, simian crease
Term
Where does the trisomy come from?
Definition
Maternal, Meiosis 1 error
Term
Triomies compatible with life?
Definition
21, 18, 13 and aneuploidy
Term
What are carriers of Robertsonian translocations invovling chrom 21 at risk for?
Definition
Child with downs
Term
This is known as monosomy X
Definition
Turners Syndrome
Term
47 XXY
Definition
Klinefelters
Term
What population is Klinefelters popular in?
Definition
Infertile males, oligospermia, and azoospermia
Term
Clinical features of Klinefelter:
Definition
Infertility gynecomastia, long limbs, anarrow shoulders, and chest learning disabilities @ puberty testicles remain small and secondary sex charac are incomplete
Term
How many x chromosomes will be active in Klinefelters?
Definition
1
Term
X aneuploidies?
Definition
47 XXX, 45X
Term
When does X activation occur in female somatic cells?
Definition
Blastocyst stage, it is random and clonal
Term
Which hypothesis states that in every cell all X chromosomes (except for 1 will be inactive?
Definition
Lyon hypothesis
Term
What is 70% of Turners syndrome due to?
Definition
Error in paternal gametogensis (remaining X chromosome is maternal)
Term
What is the most common CHROMOSOMAL CAUSE of spontaneous abortion?
Definition
Turner syndrome
Term
What hapepens with turner pregnancies?
Definition
It is compatible with life but many will miscarry
Term
Clinical features of Turner?
Definition
Infertility, underdevelopent of sexual charac, short stature, webbed neck, edema of dorsum of the hand and feet, deep set hyperconvex nails, triangle shaped face, heart defects, horseshoe kidney
Term
What is the most common genetic cause of mental impairment?
Definition
Fragile X
Term
What is the incidence of Fragile X?
Definition
1:1000-1:3600 males, 1:4000-1:600 females
Term
How do you dx Fragile X?
Definition
DNA blood test
Term
Features of Fragile X?
Definition
Mental retardation, learning disablities, autistic like behaviors (hand flapping, poor eye contact, self abuse) anxiet unstable moods behavior problems ADD/ADHD, obliivious to danger, seizsures, loose joints, large ears, long face
Term
What 3 DNA bases are repeated in triplet repeats?
Definition
CAG, CTG, CGG
Term
What happens when triplet repeats go beyond what they should?
Definition
Certain genetic conditions may occur
Term
What diseases are common with triplet repeat expansion?
Definition
Fragile X, Huntingtons , myotonic, dystrophy, friedreich's Ataxia
Term
Number of DNA base repetition in an affected individual with Fragile X?
Definition
CGG (200-1000 times)
Term
Permutation carrier rates in Fragile X?
Definition
1:250 females and 1:800 males
Term
Subfertility implications for permutation carriers:
Definition
high tech interventions, child-free living, adoption
Term
Women who can achieve preg implication for permutation carriers?
Definition
Preimplantation genetic dx, ue of egg donors, embryo adoption, standard prenatal dx
Term
Autosomal recessive disorders that are ethnic associated?
Definition
Sickle cell, cystic fibrosis PKU
Term
Where is the CFTR gene located?
Definition
7q31.2 discovered in 1989, 27 exons
Term
What causes CF
Definition
Mutations of CFTR gene
Term
This is a channel that regulates transport of chloride ion
Definition
CFTR
Term
What race is CF seen in?
Definition
Caucasians (incidence 1:2500 carrier rate 1:25)
Term
What will you seein a pt with CF?
Definition
Chronic resp problems, pancreatic insufficiency, poor growth, infertility in 95% of males
Term
What is the gold standard screening/diagnostic test in CF?
Definition
Sweat chloride test
Term
What newborn screening helps dx CF?
Definition
IRT
Term
This is an inherited disease that affects a protein inside RBC's called hemoglobin
Definition
Sickle cell
Term
What causes the change in shape of RBC in sickle cell?
Definition
Blood 02 lower, exercise, stress
Term
When are problems with sickle cell noticed?
Definition
6 months of age
Term
Who can get sickle cell disease?
Definition
Parents of a child both have sickle cell disease or trait
Term
What population is more commonly affected with sickle cell?
Definition
AA
Term
What other cultures are known to have sickle cell?
Definition
Hispanic, greek, italitan, arabic, asain, indian
Term
How many babies are born with sickle cell in the US?
Definition
1000
Term
What are the other names for 22q11 deletion syndrome?
Definition
Digeorge, Velocardiofacial, Cat Eye
Term
Clinical manifestations of 22q11 deletion?
Definition
Mild craniofacial abnormalities, slow development, palatal problems, mental retardation, heart defects
Term
How do you dx 22q11?
Definition
FISH
Term
What is usually deleted with this syndrome?
Definition
3 Mb
Term
AD,Ch4,FGFR3 gene?
Definition
Term
Allelic to Ach
Definition
Hypochondroplasia
Term
AD,Ch19,COMP gene?
Definition
Pseudochondroplasia
Term
CD,Ch17,SOX9 gene?
Definition
Campomelic Dysplasia
Term
X-linked, IDS gene?
Definition
Hunter syndrome
Term
X-linked, IDS gene?
Definition
Hunter syndrome
Term
AR,Ch5,SLC26A2 gene?
Definition
Diastrophic dysplasia
Term
What type of pattern in dwarfism?
Definition
Genetically heterogenous
Term
How much breast cancer is hereditary?
Definition
5-10%
Term
What is a majority of breast cancer?
Definition
Sporadic cancer
Term
How to tell if it is familiar cancer?
Definition
2 or more affected 1st or 2nd degree relatives
Term
Most cancer syndromes are what?
Definition
Autosomal dominant
Term
Who can pass a cancer susceptiblity gene?
Definition
Either parents
Term
Risk factors for Breast/Ovarian cancer:
Definition
FH, ADH, LCIS, elevated gail/Claus
Term
BRCA1 tumor suppressor gene, what leads to cancer?
Definition
A second mutation or loss
Term
What is the BRCA1 Two his hypothesis?
Definition
The first his is inherited from father and the second occurs somatically (BRCA1 no longer working)
Term
Recommended Breast Cancer Screening for BRCA carriers:
Definition
self breast exam monthly @ age 20, clinical breast exam 6 months @ 25, annual MMG and breast MRI @ age 25
Term
What option do carriers for BRCA1/2 have?
Definition
Prophylactic bilateral mastectomy
Term
What is recommended for ovarian cancer?
Definition
BSO when child bearing is complete or by age 35-40 (BRCA1) or 40-45 (BRCA2)
Term
Other screening for BRCA1/2 carriers:
Definition
colonoscopy @ 50 (every 3-5 years), pancreatic screening, women: annual pap starting @ 18, men: annual PSA and DRE @ 40-45
Term
Leading cause of sporadic ovarian cancer? 70% BRCA1
Definition
70% BRCA1
Term
Most common population that is affected with CRC?
Definition
90% of cases are ppl OVER 50
Term
What is the average age of colon cancer dx?
Definition
72
Term
What common type of CRC
Definition
Sporadic CRC
Term
What disease has the highest risk of developing CRC?
Definition
FAP
Term
This is extra tissue taht gros in the colon
Definition
Polyp
Term
This is a benign polyp with the potential to become cancerous?
Definition
Adenomatous polyp (adenoma)
Term
What are 95% of HNPCC tumors associated with?
Definition
Microsatellite instability (MSI)
Term
What is the age of HNPCC onset?
Definition
45
Term
What type of colon cancer predominates?
Definition
Right sided
Term
Extra colonic cancers?
Definition
Uterine, stomach, renal pelvis/ureter, ovary, billary tract, sebaceous glands, smal bowel, brain
Term
117. What are you testing for with HNPCC?
Definition
MLH-1,MSH-2,MSH-6
Term
118. What is an important component for large deletions?
Definition
MLPA, quantitative PCR
Term
119. What is the recommendation for someone whose family member has a dx of colon cancer?
Definition
Subtotal colectomy
Term
120. What should be done if the pt has a hx of ureter cancer?
Definition
Urine cytology
Term
121. What will you find in a pt with Attenuated FAP?
Definition
UGI lesions
Term
Mutation associated with atten FAP?
Definition
20-100 polyps, autosomal dominant
Term
Indications for APC gene testing?
Definition
Dx FAP in pts with polyposis (>100 adenomas), atten FAP, predictive testing for FAP in blood, relatives with FAP or APC mutations
Term
Where do all cancers arise from?
Definition
Genetic alterations
Term
What is the most useful clinical resource for managing cardiac disorders?
Definition
FH
Term
This is a heart rhythm disorder, mutations in >10 genes can be causaive, and can be caused by some meds?
Definition
Long QT syndrome
Term
Tx of LQTS:
Definition
lifestyle modification, medication avoidance, implantable defibrillator
Term
Heart problems only?
Definition
Autosomal dominant
Term
Multi-system?
Definition
Autosomal recessive
Term
What will a pt with LQTS experience?
Definition
Near drowning events, exercise or emotional stress
Term
Causes of death consistent with arrhythmia syndromes?
Definition
premature sudden death (ARVD), sudden infant death syndrome (LQTS), drowning (LQTS)
Term
his is characterized by LV enlargement, thin wall thickness, depressed LV systolic function?
Definition
Dialated cardiomyopathy
Term
Phenotype characteristics of DCM?
Definition
incomplete, age-dependent penetrance, variable expression
Term
What medications should be used to tx DCM?
Definition
ACEI, Beta blockers, ICD (for advanced- diuretics, inotropes, end stage-ventricular assist devices/cardiac transplantation)
Term
1. Independence; the right to make choices for oneself? Autonomy
2. Do no harm? Non-maleficence
3. Doing good/what is right? Beneficence
4. Being fair to all? Justice
5. Adherence to the truth? Veracity
Definition
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