FISH

Question 1

What is contiguous gene syndrome?

Answer 1

region in genome where a group of adjcacent cells are related to a particular clinical outcome, even thoughindividually, the normal functions of those genes are unrelated

Question 2

What chrosome is associated with the Continguous Gene Syndrome, WAGR?

Answer 2

11P (11p13 short arm) (Wilmms tumor, Aniridia, Genitourinary, Retardation)

Question 3

What chrosome is associated with the Continguous Gene Syndrome, Miller-Dierker/ Lissencephaly?

Answer 3

17 p

Question 4

What chrosome is associated with the Continguous Gene Syndrome, Williams Syndrome?

Answer 4

7q

Question 5

What chrosome is associated with the Continguous Gene Syndrome, VCFS? How many genes does this correspond to?

Answer 5

22Q; 40 genes, 8 pseudogenes- they are unknown

Question 6

What type of Syndrome is a 1p and Prader Willi/Angelman syndrome?

Answer 6

Contiguosu Gene syndrome

Question 7

What protein is lost as a result of the gene deletion in Willams syndrome? Clinical symptoms?

Answer 7

elastin; coarse skin and hair, lack of flexibility in the aorta, supravalvular aortic stenosis, skeleteal/joint limitations, renal anomalies,, excellent musical skills

Question 8

What’s the most common gene chip technologies? How does it function?

Answer 8

Gene array;s ; looks specifically at DNA sequences of interest. Expressive arrays look at gene product s to understand which genes are being expressed in a particular cell type at a particular time. Chromosome Array How function: A test dna is compared to a reference DNA that has a known genetic complement., ID hybridized DNAand flourescent signal.

Question 9

What chromosome can SOX5 be found in? what is it sox5 important For?

Answer 9

Chromosome 12;; development

Question 10

What technology should be used for UNEXPLAINED developmental delay, intellectual disaility, autism spectrum disorders, multiple congential nanomalies?

Answer 10

Microarrays

Question 11

Order the tecnhnology application based on size of abnomrality of gene/genome from smallest to largest ( Molecular Diagnostics, karyotype, FISH)

Answer 11

Molecular Diagnostics (1-300bp), Microarray (1 Kb to large) Fish (10 Kb-10MB), Karyotype (>3Mb)

Question 12

Which diagnostic technology cannot detect balanced rearrangements?

Answer 12

Array

Question 13

Which technology cannot detect known mutations >10 Kb?

Answer 13

Karyotype

Question 14

Which technologies can diagnose a known genetic ysndrome-anueploidy or structural (DS)?

Answer 14

Karyotype and FISH

Question 15

Which technologies can diagnose a known moolecular mutution?

Answer 15

Molecular Diagnostics (1-300bp), Microarray (1 Kb to large) Fish (10 Kb-10MB), Karyotype (>3Mb)

Question 16

Which technologies can diagnoseUPD?

Answer 16

Molecular and Array

Question 17

Which technologies can diagnose mosaicism?

Answer 17

FISH and Array

Question 18

Which technology is used for genomic scren looking for cryptic anomalies, developmental delay, consagnuinity?

Answer 18

Array