Human genome project

Question 1

mutation frequency

Answer 1

10,000 non synonymous SNPS
300-400 damaging SNV
2 bona fide disease causing mutations

Question 2

de novo mutations

Answer 2

each person has bout 70 de novo mutations in genome

de novo mutations in offspring increases with paternal age

Question 3

copy number variants CNV

Answer 3

estimated 1000 CNVs in our genomes. sequence that is at least 1 kb in length and polymorphic.

Question 4

hypomorphic

Answer 4

partially functioning gene even with mutation

Question 5

prenatal genome sequencing

Answer 5

13% of free DNA in plasma of pregnant female is fetal in origin. Can detect Edwards syndrome, patau syndrome, and down syndrome

Question 6

Genome wide association studies

Answer 6

GWAS studies comon genetic variants

Question 7

haplotype

Answer 7

combination of alleles or a set of single nucleotide polymorphisms SNPs found on the same chromosome

Question 8

common disease-common variant hypothesis

Answer 8

if a disease that is heritable is common in the population, then the genetic contributors - specific variations in the genetic code - will also be common in the population.

Question 9

Alzheimer Disease

Answer 9

APOE 4 allele is significant risk factor that in homozygous state, imparts increased risk of developing AD. genetic test not advisable because may never develop disease, and no intervention. People with down syndrome with 3 copiesof APOE have increased chance of developing AD

Question 10

Autism spectrum disorders

Answer 10

common variants affect risk for ASD, but effects are small. Therefore, common genetic variation does not explain the builk of genetic risk factors.

Question 11

age related mascular degeneration

Answer 11

one of few examples of common human disease where common variation is major risk factor