MEDICAL BIOLOGY, ANATOMY, HUMAN PHYSIOLOGY AND PATHOLOGY - Ya.I. Fedonyuk 2010
BIOLOGY
CHAPTER 1. BIOLOGICAL FOUNDATIONS OF HUMAN VITAL ACTIVITY
1.4. ONTOGENETIC LEVEL OF LIFE ORGANIZATION
1.4.2. Basics of Human Genetics
Mendelian Traits in Humans, Monogenic Diseases, Monogenic Inheritance
Traits that are inherited According to the patterns established by G. Mendel are called Mendelian traits. Some Mendelian human traits are listed in Table 1.6. Their total number exceeds 2,300.
Class="center">Table 1.6
Mendelian traits in humans
Dominant |
Recessive |
Normal |
|
Brown eyes |
Blue eyes |
Dark Hair |
Light hair |
Slanted eyes |
Straight eyes |
Nose with a hump |
Straight nose |
Wide gap between central incisors |
Narrow gap between central incisors or absence thereof |
Large, protruding Teeth |
Normal tooth shape and position |
Dimples on Cheeks |
Absence of dimples |
White forelock of hair |
Even hair pigmentation |
Presence of freckles |
Absence of freckles |
Unattached earlobe |
Attached earlobe |
Full Lips |
Thin lips |
Right-handedness |
Left-handedness |
Rh-positive Blood |
Rh-negative blood |
Ability to roll the Tongue into a tube |
Inability to roll the tongue into a tube |
Ability to taste PTC |
Inability to taste PTC |
(phenylthiocarbamide) |
|
Pathological |
|
Achondroplastic dwarfism |
Normal skeletal development |
Polydactyly (6 or more fingers/toes) |
Normal number of fingers/toes |
Brachydactyly (short fingers) |
Normal finger Structure |
Syndactyly (webbed fingers) |
Normal finger structure |
Normal blood clotting |
Hemophilia (blood clotting disorder) |
Colonic polyposis |
Absence of polyposis |
Color blindness (color vision deficiency) |
|
Presence of Skin and hair pigments |
Albinism (absence of pigments) |
Normal phenylalanine METABOLISM |
Phenylketonuria (inability to metabolize phenylalanine) |
Normal lactose metabolism |
Galactosemia (inability to metabolize lactose) |
Normal Fructose Metabolism |
Fructosuria |
Normal Hemoglobin molecule structure |
|
All Mendelian traits are discrete and controlled monogenically, i.e., by a single Gene (monogenic inheritance). Monogenic diseases, which are also controlled by a single gene, belong to Mendelian traits. The following types of monogenic inheritance are distinguished: autosomal dominant, autosomal recessive, X-linked (dominant and recessive), and Y-linked. The traits of these inheritance patterns are identified using the genealogical method by compiling and analyzing pedigrees.
Last update: 08/08/2026
Editorial and Educational Adaptation: This material has been compiled based on the primary/original source text. The project team performed an editorial review, corrected technical inaccuracies, structured sections, and adapted the content for an educational format.
What was processed:
- elimination of formatting defects (OCR errors, structural breaks, corrupted characters);
- editorial organization of content;
- standardization of terminology in accordance with academic sources;
- verification of factual statements against the original source text.
All mentions of the author, publication year, and origin of the primary text have been preserved in accordance with the source.