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Molecular Diagnostics Exam 3

Terms in this set (29)

When using amelogenin to identify the sex of an unknown individual, what would be the expected result for a male?
1. One Y allele 6bp larger than the X allele
2. One X allele 6bp larger than the Y allele
When performing paternity testing, how many mismatched loci are allowed and still identify a male as the father?
1
What type of study would Y-STR be the best fit for?
Ancestral studies down a male lineage
Which loci relationship between donor and recipient would be the most informative?
Neither of the alleles match
A patient was tested for Huntington disease. The PCR result showed 25 CAG repeats. What can you infer?
This patient is normal at the Huntingtons locus
Almost all people with C282Y or H63D HFE gene mutations develop hemochromatosis symptoms. This is a result of:
Overabsorption of iron from food
Which set of diseases are a result of genomic imprinting?
Prader-Willi, Angelman Syndrome
Which disease listed below is a result of a mitochondrial disorder?
Kearns-Sayer
Which is the correct karyotype for Turner Syndrome?
45, X
What is the codon that is repeated in Fragile X syndrome?
CGG
Which is not a checkpoint in the cell cycle that needs to be controlled for normal cell proliferation?
G1 to G2
Which of the choices below is a gene that calls for a tyrosine kinase receptor?
HER2/neu
TP53 is a(n):
tumor suppressor gene
Which disease is caused by microsatellite instability?
Lynch syndrome
What is the correct karyotype seen in Patau syndrome?
47, XX (or XY), +13
What is the correct karyotype seen in Edward syndrome?
47, XX (or XY), +18
What is the correct karyotype seen in Down syndrome?
47, XX (or XY), +21
What is the correct karyotype seen in Klinefelter syndrome?
47, XXY
What is the correct karyotype seen in Turner syndrome?
45, X
What is the mutation in Cri du Chat?
del(5p)
What is the mutation in diGeorge syndrome?
del(22q)
Which disorder is a lysosomal storage disorder?
Tay Sachs
Which mutation is involved in either reduced or accelerated drug metabolism?
Cytochrome p450 mutation
Which type of mutation would be expected to be expressed if it was found on the X chromosome?
sex linked
Which type of disorder is Prader-Willi?
genomic imprinting
Which type of disorder is Kearns-Sayer?
mitochondrial
Which type of disorder is Osteogenesis Imperfecta?
gonadal mosaicism
Does Fragile X have expansion in the coding or noncoding region?
noncoding
Which term below is used to describe mixed normal and mutated mitochondrial DNA?
heteroplasmy
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