L4/5-Tools

Question 1

What are the three steps to a polymerase chain reaction?

Answer 1

Dentature, anneal, extend

Question 2

How many PCR cycles does it take to get to a million copies?

Answer 2

20 cycles

Question 3

What type of disorder is Achondroplasia?

Answer 3

Autosomal Dominant

Question 4

What % of Achondroplasia affected individuals have NEW mutations?

Answer 4

90%

Question 5

What is the term for Probes are labeled nucleic acid sequences that hybridize to a complementary sequence by molecular hybridization..AND what 2 techniques use this?

Answer 5

Complementarity…Southern Blot and FISH(Fluorescence In Situ Hybridization)

Question 6

What is the most common autosomal recessive disease in Caucasians? What is the chance that a caucasian is a carrier?

Answer 6

Cystic Fibrosis….1/25

Question 7

How many mutations have been identified in Cystic Fibrosis?

Answer 7

1500

Question 8

What is the threshold for # of repeats to be a carrier of Fragile X? What about to be phenotypically showing? What can happen for a female carrier for fragile X? Male carrier?

Answer 8

150 repeats….more then 230 phenotypically….Female=early menopause…male=early Parkinsons Disease

Question 9

What is the disease that has progressive distal weakness and sensory loss caused by degeneration of peripheral nerves? How many genes have been ID’d? What is the MOST common gene?

Answer 9

Charcot-Marie-Tooth Disease..33…..PMP22

Question 10

What will be the change in the # of cycles needed to reach threshold for a DUPLICATED allele? What about DELETED??

Answer 10

Duplicated needs LESS cycles….Deleted needs more cycles to reach threshold

Question 11

Forensic applications, Uniparental disomy studies, Zygosity analysis, Paternity analysis, Donor engraftment after bone marrow transplantation…these are examples of?

Answer 11

Microsatellites