Complex Inheritance & Population Genetics Flashcards
The ___ ____ is a patchwork assembly of different real human genomes collectively to represent the position sequence of the human genome. It’s not necessarily the most ___ allele in that position.
Reference genome
Common
Currently ____ also called ____, from 2009 is the most commonly used clinically. Researches often use the updated ____/___, from 2013. ____ or telomere to telomere is a newly emerging reference.
GRCh37
hg19
GRCh38/hg38
T2T
_____ diseases are caused by a mutation on one gene (cystic fibrosis)
_____ diseases are caused by variations on multiple genes (coronary artery disease)
Monogenic
Polygenic
_____ model #1 is used for single gene diseases. They are used in ___ diseases with relatively ____ sibling recurrence.
Mendelian
Rare
High
____ model #2 is used for diseases caused by multiple genes. Disease frequency is more ___ and sibling recurrence is relatively ___.
Example: diabetes, schizophrenia, and MS
Multifactorial
Common
Low
In multifactorial inheritance, polygenic genes combined with environmental factors are responsible for the ____. This combination of multiple effects creates a ____ of ___ for a condition within a population.
Phenotype
Distribution of risk
____ inheritance: actions of multiple different loci, May be polygenic and/or may have environmental inputs acting on a genetic susceptibility
Examples: asthma, diabetes, clefting
Complex
Multifactorial phenotypes may be either ____ or ____
Quantitative
Qualitative
Although Multifactorial traits or diseases tend to run in the family (____), there is no clear mode of ___ as there was for Mendelian traits and diseases.
Cluster
Inheritance
The risk for neural tube defects and other Multifactorial traits are based on ___ ___ rather than calculations.
Empirical data
What are the chances of having a child with a neural tube defect?
Based on ___ of _____:
In a first degree relative ____%
Second degree relative ____%
Third degree relative ____%
Degrees of Relationship
3 -5
2
0.5
Risk of schizophrenia among the relatives of individuals with schizophrenia versus Mendelian expectations:
The ___ ___ method is a powerful design for ruling in or out genetic contribution to a phenotype. ____ (MZ) twins are compared to ___ (DZ) twins
Twin study
Monozygotic
Dizygotic
MZ twins have ____ in common genes.
DZ twins have _____ in common genes.
100%
50%
Graph comparing DZ to MZ concordances for schizophrenia:
Generic traits are inherited by ____. During Meiosis, crossing over between chromosome pairs is limited so chromosomes are inherited as blocks of sequence from ancestors. Alleles that are close together are ____ or __ ____.
Blocks
Linked
In linkage
A ____ is a physical grouping of genomic variants (or polymorphisms) that tend to be inherited together. A specific haplotype typically reflects a unique combination of variants that reside ___ each other on a chromosome
Haplotype
Near
In population genetics, ___ ___ (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in ___ ____ when the frequency of association of their different alleles is higher or lower than expected if the loci were independent and associated randomly.
Linkage disequilibrium
Linkage disequilibrium
Certain alleles tend to occur ____ due to being close on a chromosome (haplotype)
Together
Blocks of alleles are inherited together in ___ that depend on ancestry. Linkage disequilibrium blocks in one ancestry are not necessarily the same in another ancestry.
Patterns
Greater diversity and longer time recombining alleles leads to ___ LD blocks.
Smaller
Genome Wide Association Studies (GWAS) are ____-free studies of association between genetic variants and quantitative traits or disease. Associations are examined across the whole ___ using chip or sequencing techniques.
Hypothesis
Genome
Association of specific allele or haplotype in GWAS studies is expressed as ___ ___ (OR) or ___ ___ (RR) >1.
Odds ratios
Relative risks
Odds ratio or relative risks indicate the association between risk for the disease and the genetic ____ , such as a SNP allele. Probability of having the disease if the marker is present versus having the disease of the marker is not present.
Marker