Mendelian traits in humans
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Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance. Most – if not all – Mendelian traits are also influenced by other genes, the environment, immune responses, and chance. Therefore no trait is purely Mendelian, but many traits are almost entirely Mendelian, including canonical examples, such as those listed below. Purely Mendelian traits are a minority of all traits, since most phenotypic traits exhibit incomplete dominance, codominance, and contributions from many genes. If a trait is genetically influenced, but not well characterized by Mendelian inheritance, it is non-Mendelian.
Examples
- Albinism (recessive)[2]: 53
- Achondroplasia[2]: 53
- Alkaptonuria[2]: 53, 263
- Ataxia telangiectasia[2]: 53
- Brachydactyly (shortness of fingers and toes)[2]: 53
- Cataracts
- Colour blindness[2]: 53 (monochromatism, dichromatism, anomalous trichromatism, tritanopia, deuteranopia, protanopia)
- Duchenne muscular dystrophy[2]: 53
- Ectrodactyly[3]
- Ehlers–Danlos syndrome[2]: 53
- Fabry disease[citation needed]
- Galactosemia[2]: 53
- Gaucher's disease[citation needed]
- Haemophilia
- Hereditary breast–ovarian cancer syndrome[citation needed]
- Hereditary nonpolyposis colorectal cancer[citation needed]
- HFE hereditary haemochromatosis
- Huntington's disease[2]: 53
- Hypercholesterolemia[2]: 53
- Krabbe disease[citation needed]
- Lactase persistence (dominant) [4]
- Leber's hereditary optic neuropathy[citation needed]
- Lesch–Nyhan syndrome[2]: 53
- Marfan syndrome[2]: 53
- Niemann–Pick disease[citation needed]
- Phenylketonuria[2]: 53
- Porphyria[2]: 53
- Retinoblastoma[citation needed]
- Sickle-cell disease[2]: 53
- Sanfilippo syndrome[citation needed]
- Tay–Sachs disease[2]: 53
- Wet (dominant) or dry (recessive) earwax[5]
Non-Mendelian traits
Most traits (including all complex traits) are non-Mendelian. Some traits commonly thought of as Mendelian are not, including: