Simple Mendelian genetics in humans


Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders. Discrete traits found in humans are common examples for teaching genetics.

Mendelian model

According to the model of Mendelian inheritance, alleles may be dominant or recessive, one allele is inherited from each parent, and only those who inherit a recessive allele from each parent exhibit the recessive phenotype. Offspring with either one or two copies of the dominant allele will display the dominant phenotype.
Very few phenotypes are purely Mendelian traits. Common violations of the Mendelian model include incomplete dominance, codominance, genetic linkage, environmental effects, and quantitative contributions from a number of genes.
OMIM is a comprehensive database of human genotype–phenotype links. Many visible human traits that exhibit high heritability were included in the older McKusick's Mendelian Inheritance in Man. Before the discovery of genotyping, they were used as genetic markers in medicolegal practice, including in cases of disputed paternity.

Human traits with probable or uncertain simple inheritance patterns

DominantRecessiveReferences
Low heart rateHigh heart rate
Widow's peakStraight hair line
Facial dimplesNo facial dimples
Ability to taste PTC, "Taster"Unable to taste PTC, "Nontaster"
Unattached earlobeAttached earlobe
Clockwise hair direction (left to right)Counter-Clockwise hair direction
Cleft chinSmooth chin
FrecklesNo freckles
Wet-type earwaxDry-type earwax
Roman noseNo prominent bridge
Marfan syndromeAverage body proportions and connective tissue
Huntington's diseaseNo nerve damage
Normal mucous liningCystic fibrosis
Photic sneeze reflexNo light-induced sneeze reflex
Forged chinReceding chin
White forelock presentNo white forelock
Ligamentous angustusLigamentous Laxity
Ability to eat sugarGalactosemia
Total leukonychia and Bart pumphrey syndromePartial leukonychia
Absence of fish-like body odourTrimethylaminuria
Primary hyperhidrosisLittle sweating in hands
Lactase persistenceLactose intolerance
Prominent chin Less prominent chin
Acne proneClear complexion