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18 Cards in this Set
- Front
- Back
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What are some indicators to do a fetal karyotype?
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1. Advanced maternal age
2. Family history 3. previous miscarriages 4. previous child with chromosomal abnormality 5. exposure to hazardous chemicals 6. risk neural tube defect 7. results of maternal serum screening and ultrasound |
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Maternal serum screening
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blood taken 15-20 weeks gestation
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What is a triple screen?
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Quad screen inhibin A, placental hormone
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What is an elevated triple screen an indicator of?
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Down
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What does an elevated Alpha fetal protein indicate?
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NTD
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What does a lowered Alpha fetal protein indicate?
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Down
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What does a lowered uE3 unconjugated estriol indicate?
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Down or Trisomy 18
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What does an elevated HCG indicate?
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Down
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What does a lowered HCG indicate?
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Trisomy 18
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What to mt disorders show?
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Reduced penetrance, variable expressivity, and pleiotropy
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Why does mt DNA mutate at rapid rate?
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error prone replication, oxphos, free radicals , and lack histones
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What does the mt genetic bottleneck mean?
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in the developing oocyte there is a decrease in the number of mt genomes (mt DNA
molecules—due to destruction of DNA molecules) before amplifying the remaining mt DNA molecules to huge numbers in the mature oocyte |
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What do mt DNA mutations most commonly affect?
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neuromuscular system, ataxia, retinal degeneration, external ocular muscles, affected encephalopathy, myopathy - ragged red muscle fibers due increase number abnormal mt in cell, liver disfunction, bone marrow failure, pancreatic islet - diabetes, deafness
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Describe the genome of human mitochondria
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small, circular double stranded DNA, each mitochondrion has multiple mt genomes in it typically there are multiple mitochondria per cell
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Advantages of using Drosophilia
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small size, short life cycle, small genome, 4 chromosomes - X,2,3,4
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What is the period in Drosophilia life cycle that is before and after molting and is a period of growth?
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Instar
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What are the ways to tell the difference between a female and male drosophilia?
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1. size (female bigger)
2. shape of abdomen 3. Markings on abdomen 4. appearance of sex combs 5. External genetalia |
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What does the fly medium consist of?
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Cornmeal, sugar, baker's yeast, and agar
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