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Neurofibromatosis I is:
a. AD
b. AR
c. X linked recessive
d. linked dominant
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b. Chromosome breaking
c. Fragile X syndrome
c. Trinucleotide-repeat expansion
d. Retinoblastoma
d. Mitochondrial mutation
Both
parents normal
number of children affected
Variant of AD
Due to new mutation in egg or sperm post
zygotically
Gametes carry mutations, somatic cells
normal
Eg Osteogenesis imperfecta, achondroplasia,
tuberous sclerosis
Variable
Triple repeat
mutation
Repeatation of
triple s codons
Premutations
present
Anticipation seen
Amplification
occurs during
oogenesis
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Out
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Deletion of paternal
chromosome 15q12
Only imprinted
maternal allele
present
Can also be due to
maternal uniparental
disomy
Ghrelin hormone (
increases appetite)
Angelmann syndrome
Deletion of maternal
chromosome 15q12
Only imprinted
paternal allele
present
Can also be due to
paternal uniparental
disomy
Ubiquitin ligase gene
affected
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NARP is a:
a. Lipid storage disorder
b. Glycogen storage disorder
c. Mitochondrial disorder
d. Lysosomal storage disorder
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Microarray is:
a. Study of multiple genes
b. Study of disease
c. Study of organisms
d. Study of blood group
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