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Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Human genetics is the study of inheritance as it occurs in human beings.Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.
For example, the notion of heritability is easily misunderstood to imply causality, or that some behaviour or condition is determined by one's genetic endowment. [79] When behavioural genetics researchers say that a behaviour is X% heritable, that does not mean that genetics causes, determines, or fixes up to X% of the behaviour.
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Monogenic may refer to: Monogenic signal, in the theory of analytic signals; Monogenic disorder, disease, inheritance, or trait, a single gene disorder resulting from a single mutated gene. Monogenic diabetes, or maturity-onset diabetes of the young (MODY), forms of diabetes caused by mutations in an autosomal dominant gene; Monogenic obesity
Neutral, or synonymous SNPs are still useful as genetic markers in genome-wide association studies, because of their sheer number and the stable inheritance over generations. [26] A coding SNP is one that occurs inside a gene. There are 105 Human Reference SNPs that result in premature stop codons in 103 genes. This corresponds to 0.5% of ...