Non-Mendelian Inheritance
Terms
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- What is an example of a dynamic genetic disorder?
- Triplet Repeats Fragile X, Huntington's Disease, Myotonic Dystrophy
- What type of dynamic genetic disorder can change within the generation
- Triplet Repeats
- where do the vast majority of triplet repeats occur?
- spino-cerebellar ataxia
- what is Genetic anticipation?
- Expansion increases in subsequent generations
- Fragile X is dependent on expansion in maternal or paternal meiosis?
- Maternal
- Huntington's Disease expansion occurs in maternal or paternal meiosis?
- Paternal
- Myotonic Distrophy is from maternal or paternal meiosis?
- maternal
- Is MD ever from random mutation?
- No. Always familial
- What is different from typical Mendelian inheritance?
- Age of onset is variable. Increases in severity, genetic anticipation
- what is one of the most common genetic causes of MR?
- Fragile X
- Why isn't fragile X follow classic x linked inheritance?
- We see an excess of affected females that are not affected but are carriers, we see an increase in severity from genetic anticipation, none of that makes sense under classic mendelian inheritance
- What is a premutation
- people with a certain range of repeats, 40-50 in fragile x for example, who are phenotypically normal , and for fragile x premutation in women leads to expansion in next generation
- Which two diseases share the 4p12 gene?
- Wolf-Hirschorn and Huntington's disease
- Expanision occurs in males or females who have Huntington's?
- Males
- What tissue/organs are likely to be affected by mitochondrial disease/mutation?
- high energy tissue, gut, cns, muscle liver
- Describe the structure of mitochondrial dna?
- two non identical strands, heavy and light, circular 1600 bp
- what does mitochondrial dna code for?
- 2 rRNA, 22 tRNA, 13 polypeptides
- Maternal or Paternal energy disease inheritance?
- Maternal, because mitochondrial DNA inherited through mother only. Mt of males are in tail of sperm that fall of during fertilization
- Can a dad be responsible for children affected with a mitochondrial mutation?
- He can't pass on the mutation. Maternally inherited only
- What cells get mitochondrial mutations?
- Somatic Cells have multiple mitochondria
- Define Heteroplasmy
- ration mutant/normal mtDNA
- Most mitochondrial proteins are coded for by mitochondrial or nuclear genes?
- Nuclear
- What is a hydatiform mole?
- All 46 chromosomes from father. placental tumor with no embryonic tissue
- What is an ovarian teratoma?
- All 46 chromosomes from mom. activation of an unfertilized oocyte
- Which chromosomes have no imprinted genes?
- 21, 2
- Chromosomes with big imprinting segments
- 7,11,14,15
- imprinting refers to what?
- differential expression of paternal or maternal allele
- UBE3a error causes what on chromosome 15
- Angleman syndrom
- If you have two copies of chromosome 15 from mom and none from dad what disorder occurs?
- Prader Willi
- if dad give chromosome copy 15 that he got from his mother, he is unable to reset, then you get what syndrome?
- Prader Willi
- What is an example of a tissue relaxing the effects of imprinting disorders?
- Albright Hereditary Osteodystrophy (AD) It only requires them mother's gene in the neurological tissue, but skeletal tissue requires maternal and paternal genes. varied effect seen in the body depending on which allele is imprinted. maternal allele missing leads to the skeletal disorder and brain disorder GNAS1 gene