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MSGC 510:Module 5
Review
| Question | Answer |
|---|---|
| Alternate forms of gene characterized by differences in nucleic acid sequence | Allele |
| The site that a gene occupies on a chromosome | Locus |
| Having two disease causing alleles at a locus, one on each chromosome | Hemizygous |
| Autosomal dominant inheritance | Trait appears in every generation Only one copy of the disease-causing allele is needed for trait Affected individuals transmit mutation to 1/2 their offspring M & F equally likely to have/transmit trait Unaffected individuals dont transmit mutation |
| X-linked recessive inheritance is | Hemizyg M affected; heterozyg F unaffected F may be affected due to skewed XCI, homozyg. abnl allele, 45,X Nl.carrier mom transmits to 1/2 sons & 1/2 girls Affected M =all carrier girls,0% affected sons Unaffected M dont transmit |
| Autosomal recessive inheritance | Trait usually appears among sibs, not parents, offspring, other relatives. 2 disease-causing alleles req'd Carrier parents, (heterozygotes), ~¼ affected, ½ carriers, ¼ unaffected/non-carriers Unaffected child =2/3 chance a carrier M:F = 1:1 |
| A spectrum of phenotypic presentation within the same genetic condition. This can be a range in severity or differing symptoms from person to person (or both – even within the same family | Variable expressivity |
| A single genetic change influences multiple, seemingly unrelated phenotypes | Pleiotrophy |
| Difference between polygenic and multifactorial conditions | Polygenic diseases: Combined effects of variants in several genes. Multifactorial (or complex) diseases: multiple gene variants and environmental factors interact. |
| Counseling considerations for multifactorial inheritance | # genetic loci involved usually not known Particular alleles at each relevant loci in parents are usually not known The effect of the factors, i.e. protective or deleterious, and how they interact, is undefined Environmental effects are often unknown |
| Real vs. Artificial association | Real - True disease susceptibility - variant affects gene funx. Linkage disequilibrium - not variant looking at, but next to the one involved Artificial - cases & control differ in more ways than whether or not they have disease |
| What is polygenic risk score? | Provides quant metric of person's inher risk based on cumulative impact of many common polymorphisms Weights generally assigned to each variant based on strength of assoc w/ disease risk Individuals scored combining effect size for risk genotype |
Created by:
Hollys1126
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