Lecture 5

Question 1

waht we use when we dont know the muttation?

Answer 1

1. sequencing
2. take pedigree and see qwhere the allele was inheritted. use a surrogate marker and track it though the alleles. Uses polymorphism as marker

Question 2

what methods use when mutations are known?

Answer 2

RFLP
ASO
PCR

Question 3

what method to use when theres a change in copy number?

Answer 3

FISH
CGH
MLPA

Question 4

how to id novel mutations?

Answer 4

sequencing

Question 5

what type of polymorphic markers are most common?

Answer 5

CA-rtp marker: a type of VNTR (microsatellite)

Question 6

what is VNTR alleles?

Answer 6

variable number tandem repeats

Question 7

what are tandem repeats?

Answer 7

highly repeated DNA. referred to as satellite DNA because it separates from the bulk of the genomic DNA ultracentrifugation (like a satellite of a larger body)

Question 8

when analysing a CA-rpt marker how what is the meaning of darker and lighter bands?

Answer 8

darker: represent 2 alleles
lighter: aka stutter band, are artifacts caused by slippage of the Tap polym, in the CA repeat

Question 9

what doe is mean for a polymorphism to be very close to the disease?

Answer 9

within a million bp. ideally in the same chromossome

Question 10

what are the 4 steps of gene tracking?

Answer 10

1. determine the mode of inheritance
2. determine which family must be informative (heterozygous)
3. establish the phase. (make association btw marker allele and disease mutation on chromosome
4. type of consultand