Genetics Vocabulary 3 Flashcards

Terms Definitions
PKU amino acid
Leigh syndrome
subacute necrotizing encephalomyelopathy
Mitoticphase(M phase)
prophase,metaphase, anaphase, telophase, cytokinesis
making genetically identical organism.
observed characteristics of an individual, produced by the interaction of genes and enviroment
one billion per retinacontain Rhodopsin(bleaches when exposed to light which converts light into shades of gray)responsible for night vision, very sensitive to low levels of light
chromosomes condense each chromosome posses two chromatids, mitotic spindle forms
Character (characterisitc)
an attribute or feature
missing pieces of a chromosome.
Turner syndrome
45, X
Female, short stature, amenorrhea, poorly developed lymphatic system, heart defects (coarctation)
Paternal Nondisjunction
Not related to maternal age
What does dystrophin do?
anchors muscle fibers
a fundamental process in which adenosine pairs with thymine and guanine with cytosine
Disease registries
a valuable epidemiological resource that can be used to calculate incidence rates and risks, as well as to maintain surveillance and monitor trends in incidence and mortality.
Mitochondrial Diseases
Many mutations are deletions associated w/ neurological or neuromuscular disorders. Others are point mutations that cause disease of CNS or musculoskeletal systems. many disorders are chronic, late- onset diseases.
patterns of inheritance that follow the classic laws of Mendel -- autosomal dominant, autosomal recessive, and X-linked (dominant and recessive)
Form of inheritance where two different genes interact to produce an intermediate phenotype different to both parents
Anaphase 1
homologous chromosomes separate and move toward opposite poles
temperature sensitivity allele
temperature inactivated, environment influences the phenotype of an allele, ex: himalayan rabbit
3 domains of organisms
eubacteria, archea, eukaria
What is microsatellite DNA?
repeated 10-100 times.
Trisomy 18?
Edward's syndrome; symptoms include severe physical and mental disabilities, heart defects, often the defects are so bad the fetus dies; often from nondisjuncture in women's eggs.
P arm?
short arm of the chromosome.
Adeno-associated virus?
inserts into specific chromosomal sites, long term expression, nontoxic, but carries a small amount of DNA.
William's syndrome symptoms
elfin facies, MR, hypercalcemia, "cocktail party" personality, cardiovascular problems
a condition which is due to environmental factors, but resemebles one that is genetic
What in the Hardy Weinberg equation represents carrier frequency?
What type of mutation changes the codon to a stop codon?
What are the three steps of PCR?
Therapy MSUD
stop natural protein intake, rehydrate with 10% glucose and insulin drip to promote anabolism, liver transplant?
individual who has 2 different alleles at a locus
Longitudinal segments
1. Rhizomelic (upper arms/thighs) 2. Mesomelic (forearms/legs) 3. Acromelic (hands/feet)
Examination of neck
1. Inspection/observation 2. Neck motility 3. Palpation. 4. Ausculation
Development of new individuals from an unfertilised egg
chromosomes line up on the metaphase plate
set of alleles possessed by an individual organism.
CHARACTERISTICS such as leaf shape or eye color that are passed from parent to offspring.
The 3-letter piece segments of mRNA are called?
condensed DNA that is visible during cell division.
Blunt end?
ends of restriction fragment are double stranded.
LaZy People DIP and DIe
5 stages of crossing-over/recombination in meiosis
What AD disease has associated risk of berry aneurysm?
What are AR modes of inheritance usually a result of?
enzyme deficienies
What chromosome is mutated in familial adenomatous polyposis?
ch. 5
portions of the genes that encode for amino acids, retained
DNA mutation screens
Requires high frequency mutations with current technology
Minor variants: joints
1. Loose jointedness 2. Pes planus
an embryonic cell this is capable of giving rise to different types of differentiated tissues or structures, depending on its location and environmental influences
Genotype of an individual that has the same genes for a particular characteristic
incomplete penetrance
genotype does not always express the phenotype of interest
sex determination system in mammals
XX-XY ~ XX=f XY=m
the degree to which a character is expressed in an individual
T or F. Different proteins may be expressed differently in one organ?
What is gene amplification?
selective amplification of certain genes; often genes that are used frequently; rRNA genes.
What signals the end of a gene?
a terminator.
Uniparental disomy?
when you have nondisjuncture of the same chromosome from each parent; one gamete lacks the chromosome, the other gamete has 2 copies; very rare.
ultrasound to check on baby; can see gross abnormalities, but not chromosomal problems; done 13-14 weeks after conception.
T or F. Many people think that transgenic crops will accidentally breed with standard crops creating something like a weed?
Bacterial artificial chromosome (BAC)?
large, fake prokaryotic chromosome; holds up to 500 kb.
Patau's syndrome symptoms
MR, Cleft lip or palate, rocker-bottom feet, clenched fist with overlapping fingers, polydactyly, holoprosencephaly, congenital heart disease
What does G-banding allow one to do?
visualize the chromosomes
What is the characteritis finding in Cri-du chat syndrome?
high pitch crying
What type of facie does a William's syndrome patient have?
Elf like
basic unit of dna or rna consisting of one deoxyribose (ribose in RNA case) one phosphate, and one nitrogenous base
Deformations: limbs
1. Tibial bowing 2. Femoral bowing 3. Tibial/femoral torsion (intoeing/outtoeing)
Thyroglossal duct cyst or sinus
1. Midline position (distinguishes from branchial cleft abnormalities) 2. Can be fluid filled
This is an alternate form of a gene for a specific trait or gene product
2, 1 before interkinesis and 1 at the end
Principle of independant assortment
alleles at different loci seperate independantly of one another
What are proteins?
the cellular building blocks made of different combinations of 20 amino acids.
What do you call a protein that loses its conformation (often from heat, pH, or salt)?
Fragile X Syndrome (re: satellite info)
CGG microsatellite becomes minisatellite.
centromere is close to the end of the chromosome.
Gene therapy: liver?
can regenerate; insert genes to fix familial hypercholesterolemia.
clinical features of Marfan syndrome
tall, thin, scoliosis, pectus, long fingers, myopia, dislocated lenses, aortic dilation, dissections, aneurysms, mitral valve prolapse
What are two classic examples of imprinting and consequences of not inheriting the non-imprinted allele?
angleman and prader willi
How many hits does a gain of function mutation need?
1 hit
Branchial cleft fistula
1. Extends from tonsillar fossa to the anterolateral neck 2. Drainage passage from the internal tissues to skin surface
autosomal dominant pedigree patterm
equal frequency in males and females, doesn't skip generations
What is Mad Cow Disease?
a bovine neurological disease thought to be transmitted through eating infected meat.
Ames test?
bacterial test to see if a chemical is a mutagen.
T or F? If 2 carriers' first child has a recessive disease, there is no guarantee the next 3 children will be healthy.
What is the difference between variable number of tandem repeats and short tandem repeat polymorphisms, with regards to what they detect?
variable number of tandem repeats detect minisatellite repeats
short tandem repeat finds microsatellites (2-6bp)
What is the main difference between DiGeorge Syndrome and Velocardiofacial syndrome?
DiGeorge invovles thymus and parathyroid problems
Velocardiofacial involves facial problems (palate)
x-linked dominant trait pattern in pedigree
females more affected, doesn't skip generations, affected fathers pass the trait to all daughters
Who discovered introns? What year?
Philip Sharp and Richard Roberts in 1977.
Gene therapy: nervous tissue?
hard to reach and doesn't normally do mitosis; insert genes to fix Alzheimer's, Huntington's, Parkinson's, spinal cord injuries.
What is the Hardy Weinberg equation?
p2 + 2pq + q2 = 1
A false negative occurs when
individuals with a higher risk for the disorder are not identified by the screening test.
How can concordance show genetiv vs. environmental effect on a trait
higher concordance in monozygotic than in dizygotic twins indicated genetic inluence. less than 100% concordance in monozygotic twins indicates environmental influence
How to make a karyotype?
1. Grow cells in a tissue culture flask. 2. Add Colchicine that stops mitosis at metaphase. 3. Add Giemsa dye on the cells to highlight the dark + light bands. 4. Drop the cells on a slide from 12 inches high. 5. Look at cells under powerful microscope.
What is the result of a deleted Phe amino acid at position 508 of ch. 7?
post translational abnormal protein folding-->cystic fibrosis
channel is degraded before reaching the membrane
What are the ways to make many proteins from few genes?
1. Alternative RNA splicing, 2. Intron, 3. Dentinogenesis Imperfecta: One gene may be split in half to form 2 proteins.
In what year did scientists put some human embryonic stem cells into damaged but living pig hearts? What was the outcome?
2004. The human cells eventually started beating.
What are the four proteins made in the pancreas?
1. insulin, 2. glucagon, 3. somatostatin, 4. amylase.
What are the advantages of asexual reproduction
Time & energy are not used to produce sex cells
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