Genetic Influence On Disease Flashcards
What is the genotype?
Genetic constitution of an individual or group, as determined by the particular set of genes possesses
What is the phenotype?
The observable characteristics of a individual resulting from interaction between genes they possess and their environment
What is a genetic disease?
A disease caused in whole or in part by a changer in the DNA sequence
What is spine bifinda?
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
How can spina bifida be prevented?
Having enough folic acid in your system by the early weeks of pregnancy
How can spina bifida be treated?
Fetal surgery during pregnancy
Surgery on baby right after birth
What is polymorphism?
Frequent hereditary variations at a locus
What are genetics?
Single gene disorders
What are genomics?
Study of the entirety of DNA, the genome, together with the technologies which allow sequencing, interpretation and analysis
What is genomic medicine?
Application of genomics to clinical care
What is a gene?
A segment of DNA that contains the biological instructions for a particular polypeptide usually a specific protein or component of a protein
What is a pathogenic variant?
An alteration in genetic sequence that increases an individuals susceptibility or predisposition to a certain disorder
What is a benign variant?
An alteration in genetic sequence which is not disease causing
What is the variant of unknown significance?
An alteration in a genetic sequence whose association with disease risk is unknown
What is a secondary finding?
Results which provide information about variants which are unrelated to the primary reason or Clinical indication for testing
What is additional looked for finding?
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
What is penetrance?
the proportion of individuals with a particular genotype who express the associated
phenotype / develop features of a condition
What is diagnostic testing?
Genomic / genetic testing in someone affected with features of a condition to
aid diagnosis
What is predictive testing?
Genomic / genetic testing in an unaffected individual, specifically for a
pathogenic variant known to be present in a family member
Homozygous
Both alleles the same at a locus
Heterozygous
Alleles at a locus are different
Hemizygous
Only one allele refers to a locus on an X chromosome in a male
ACMG criteria
Formal scoring system to decide if a gene variant is ‘pathogenic’
What is autosomal dominant inheritance?
Disease which is manifest in the heterozygous state
What is autosomal recessive inheritance?
Disease which is manifest in homozygous state
What are X-linked recessive inheritance caused by?
Pathogenic variants in genes on the X chromosome
