Genetic Influence On Disease

Question 1

What is the genotype?

Answer 1

Genetic constitution of an individual or group, as determined by the particular set of genes possesses

Question 2

What is the phenotype?

Answer 2

The observable characteristics of a individual resulting from interaction between genes they possess and their environment

Question 3

What is a genetic disease?

Answer 3

A disease caused in whole or in part by a changer in the DNA sequence

Question 4

What is spine bifinda?

Answer 4

A developmental defect in which the newborn baby has part o the spinal card and it’s coverings exposed through a gap in the backbone

Question 5

How can spina bifida be prevented?

Answer 5

Having enough folic acid in your system by the early weeks of pregnancy

Question 6

How can spina bifida be treated?

Answer 6

Fetal surgery during pregnancy
Surgery on baby right after birth

Question 7

What is polymorphism?

Answer 7

Frequent hereditary variations at a locus

Question 8

What are genetics?

Answer 8

Single gene disorders

Question 9

What are genomics?

Answer 9

Study of the entirety of DNA, the genome, together with the technologies which allow sequencing, interpretation and analysis

Question 10

What is genomic medicine?

Answer 10

Application of genomics to clinical care

Question 11

What is a gene?

Answer 11

A segment of DNA that contains the biological instructions for a particular polypeptide usually a specific protein or component of a protein

Question 12

What is a pathogenic variant?

Answer 12

An alteration in genetic sequence that increases an individuals susceptibility or predisposition to a certain disorder

Question 13

What is a benign variant?

Answer 13

An alteration in genetic sequence which is not disease causing

Question 14

What is the variant of unknown significance?

Answer 14

An alteration in a genetic sequence whose association with disease risk is unknown

Question 15

What is a secondary finding?

Answer 15

Results which provide information about variants which are unrelated to the primary reason or Clinical indication for testing

Question 16

What is additional looked for finding?

Answer 16

Results which provide information about variants which are
unrelated to the clinical indication for testing: patient opts in and consents to testing for these.

These tend to be conditions with significant health implications, whose clinical course can be altered by screening or risk-reducing measureless

Question 17

What is penetrance?

Answer 17

the proportion of individuals with a particular genotype who express the associated
phenotype / develop features of a condition

Question 18

What is diagnostic testing?

Answer 18

Genomic / genetic testing in someone affected with features of a condition to
aid diagnosis

Question 19

What is predictive testing?

Answer 19

Genomic / genetic testing in an unaffected individual, specifically for a
pathogenic variant known to be present in a family member

Question 20

Homozygous

Answer 20

Both alleles the same at a locus

Question 21

Heterozygous

Answer 21

Alleles at a locus are different

Question 22

Hemizygous

Answer 22

Only one allele refers to a locus on an X chromosome in a male

Question 23

ACMG criteria

Answer 23

Formal scoring system to decide if a gene variant is ‘pathogenic’

Question 24

What is autosomal dominant inheritance?

Answer 24

Disease which is manifest in the heterozygous state

Question 25

What is autosomal recessive inheritance?

Answer 25

Disease which is manifest in homozygous state

Question 26

What are X-linked recessive inheritance caused by?

Answer 26

Pathogenic variants in genes on the X chromosome