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48 Cards in this Set
- Front
- Back
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what is the role of DNA
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direct protein synthesis and control cellular activity
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which bases are purines
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adenine
guanine |
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which bases are pyrimadines
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cytosine
thymine uracil |
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put these in order:
assembly of protein by ribosomal RNA in the cytoplasm transcription of DNA onto RNA messenger Transfer RNA delivers amino acid to ribosomal RNA Transport mRNA |
transcription of DNA onto RNA messenger
Transport mRNA Transfer RNA delivers amino acid to ribosomal RNA assembly of protein by ribosomal RNA in the cytoplasm |
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which RNA strand is a template for protein synth
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mRNA
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which RNA delivers amino acids to ribosome
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tRNA
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which RNA is responsible for protein synthesis at the ribsome
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rRNA
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the degree to which a group of genes is active is known as
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gene expression
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of the genes controling protein synthesis, which serves a regulatory function, often making up the operon
which specify the amino acid sequence? |
regualtor genes
structural genes |
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what are the three causes of mutations
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substitution of base pairs
loss or addition of base pairs rearrangement of base pairs |
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which mutations are not inherited and genereally associated with aging
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sporadic mutations
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how many chromosomes do we have
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46- 23 pairs
if they ask autosomes say 22 pairs |
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the study of the characeteristics of a cells chromosomes
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cytogenetics
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chromosome mapping
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karotyping
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which cells undergo division resulting in a single set of 23 chromosomes, what is this called
what about 23 paired chromosomes |
germ cells, meiosis
somatic cells, mitosis |
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an inactive chromatin mass of X chromosome is referred to as
who typically has them, males or females |
barr body
females |
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the likelihood of a given genotype producing its associated phenotype
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penetrance
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is someone is heterozygous for a recessive trait (Aa) they are known as a
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carrier
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mitochondrial DNA is passed down from the mother or the father
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mother
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this DNA technology has been responsible for synthesizing human insulin, growth hormone, and clotting factors
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recombinant DNA
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list three broad causes of birth defects
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Genetics
Environment intrauterine (fetal crowding, amniotic band) |
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which are more redictable, single or multi gene disorders
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single
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which is not a result of a single gene disorder
formation of an abnormal protein absence, lack, or overabundance of a given enzyme or protein defects during fetus development defects in enzyme receptor formation |
defects during fetal development, typically due to multiple genes
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which is not an X-linked disorder:
hemophilia A Sickle Cell Duchenne dystrophy fragile-x |
sickle cell- autosomal recessive
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which is not an autosomal recessive disorder:
tay-sachs, cystic fibrosis, marfans, PKU, or sickle cell |
Marfans- autosomal dominant
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which is not autosomal dominant:
polycystic kidney disease, Albinism, Huntigton Chorea, Neurofibromatosis, achondroplasia, von Willibrand |
Albinism- autosomal recessive
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pt presents with extremely long limbs, pectus excavatum, and arachnodactyly. What condition, what type of genetic disorder, and what are you most concerned about
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Marfans- autosomal dominant
beware of aortic dissection |
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this condition is characterized by 6 + cafe au lait spots and lisch nodules. pts are often of short stature due to malformation of the long bones and may have multiple tumors
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neurofibromatosis 1
autosomal dominant |
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11 pt presents with headaches, hearing loss, and tinnitus. You suspect something with the acoustic nerve. why do you assume it is not Neurofibromatosis 2
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NF2 typically presents >15 yo
autosomal dominant |
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a mother brings her son in because he has been suffering from seizures. Upon examination you notice a lack of skin pigmentation and a "musty odor". What do you suspect and how do you treat
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PKU
Restrict diet to exclude phenylalanine |
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a father brings his infant to you because of seizures and now paralysis of his right leg. During HPI you ascertain their background to be ashkenazi. Upon physical examination you notice a cherry red spot in the eye. What do you suspect and what is your prognosis
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Tay-Sachs (auto recessive)
Poor prognosis, most babies die before 4th birthday |
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this x-linked disorder is the second leading cause of MR, males typically present with more severe phenotype. Characteristics include a long face with large mandible, hyperextensible joints, MVP, and in males, macroorchidism
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fragile x
(x-linked) |
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aneuploidy refers to what?
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an abnormal number of chromosomes
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what is the difference between trisomies and triploidy
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trisomies- there are three copies of one chromosome
triploidy- there are three copies of every chromosome |
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list the different types of structural chromosomal damage
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deletion, inversion, translocation, and fusion
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child presents with flat facial profile, epicanthal folds, a big protruding tongue, and only one simian crease. What most likely caused this
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maternal nondisjunction of 21st chromosome
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what is the biggest risk for having a downs syndrome baby?
What tests can we run to screen for this |
mothers age
amniocentesis, chorioni villus sampling, and nuchal translucency. may show-> alpha fetoprotein, human chorionic gonadotropin, unconjugated estriol (if any of these are eleveated we might be concerned) |
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what are the two sex chromosome disorders we discussed
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Turner Syndrome and Kleinfelters
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20 yo female comes to your office complaining of headaches. Upon examination you notice she is short, ander developed, and has sparse body hair. If you did a genetic test what would you expect to find.
What would you do for this patient |
absence of at least part of the X chromosome indicates Turners syndrome
offer pt couseling, growth hormone, and estrogen therapy |
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parent brings 5 yo son to your office suspecting a developmental issue because of language impairment. You notice the child is tall but disproportionate, with a long lower half. He also has underdeveloped testis. What do you suspect and what will you do for your pt
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Kelinfelters
speech therapy, androgen therapy, and genetic counseling |
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what tissues do mitochondrial DNA mutations most affect.
How does this present itself |
tissues dependent on oxidative phosphorylation
typically impact neuromuscular system. subjects appear normal at birth but show neuromusclar decline quickly |
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a 4 y/o pt always seems to be smiling at you. A genetic test reveals a chromosomal deletion on the mothers side
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Angelman syndrome
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mother brings her 4 y/o son to you because she is concerned about his weight. HPI reveals behavioral issues and lack of inhibition. Looking back through the medical record you notice the pt was hypotonic at birth
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Prader Willi Syndrome
paternal deletion |
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according to Mrs Bruner, what is the most susceptible time during fetal development
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15-60 days post conception
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list some viruses that could be considered teratogenic
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cytomegalovirus
herpes, measles, mumps, varicella |
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a patient of yours brings in a 3yo child she adopted for her first physical. The child has a small head, epicanthal folds, flat midface, smooth philtrum, and underdeveloped jaw. you suspect this child has
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fetal alcohol syndrome
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a deficiency in this leads to neural tube defects (spina bifida, encephalocele), but is easily prevented
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folic acid
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list methods of fetal diagnosis
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maternal blood screening (alpha fetal protein-> neural tube defect, hCG-> downs), ultrasound, amniocentesis, CVS, umbilical sampling
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