mapping mendelian disease

Question 1

how do we find disease causing mutations

Answer 1

sequencing

Question 2

how do we prove they cause disease

Answer 2

using in silico, in Vitro and in vivo tools

Question 3

define genetic linkage

Answer 3

tendency for alleles at neighbouring loci to segregate together at meiosis

Question 4

define haplotype

Answer 4

multiple alleles at linked loci

mark chromosomal segments which can be tracked through pedigrees and populations

Question 5

cross overs defined

Answer 5

during meiosis are more likely to occur between loci separated by some distance than close together

Question 6

what happens if an allele is linked to a disease locus

Answer 6

same allele will be inherited by two affected relatives more than expected by chance

Question 7

if alleles and disease locus are linked

Answer 7

all the affected individuals in a family are more likely to inherit this halotype block

Question 8

if allele and disease locus are unlinked

Answer 8

affected individuals In a family are less likely to inherit same marker alleles

Question 9

describe linkage analysis

Answer 9

gene mapping tool

using observed loci to draw inferences about an unobserved locus

Question 10

primary lymphedema

Answer 10

chronic oedema caused by developmental abnormality of lymphatic system

often progressive

phenotypes vary: 
age of onset
site
inheritance patterns 
associated features

Question 11

lymphedema is?

Answer 11

debilitating
embarrassing
stressful
recurrent infections

Question 12

generalised lymphatic dysplasia

Answer 12

antenatal hydrops with ascites and pleural effusions

oedematous at birth

intestinal lymphangiectasia
peripheral lymphoedma, arms, legs and face

mild developmental delay

Question 13

how do we find disease causing mutations

Answer 13

traditional sanger sequencing

next generation sequencing
whole genome sequencing
whole exome sequencing