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Autosomal dominant and autosomal recessive inheritance, the two most common Mendelian inheritance patterns. An autosome is any chromosome other than a sex chromosome.. In genetics, dominance is the phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.
Heterozygous genotypes are represented by an uppercase letter (representing the dominant/wild-type allele) and a lowercase letter (representing the recessive/mutant allele), as in "Rr" or "Ss". Alternatively, a heterozygote for gene "R" is assumed to be "Rr". The uppercase letter is usually written first. [citation needed]
Since the homozygous recessive individual can only pass on recessive alleles, the allele the individual in question passes on determines the phenotype of the offspring. [3] Thus, this test yields 2 possible situations: If any of the offspring produced express the recessive trait, the individual in question is heterozygous for the dominant ...
Since dominant traits mask recessive traits (assuming no epistasis), there are nine combinations that have the phenotype round yellow, three that are round green, three that are wrinkled yellow, and one that is wrinkled green. The ratio 9:3:3:1 is the expected outcome when crossing two double-heterozygous parents with unlinked genes.
In a dominant-recessive inheritance, an average of 25% are homozygous with the dominant trait, 50% are heterozygous showing the dominant trait in the phenotype (genetic carriers), 25% are homozygous with the recessive trait and therefore express the recessive trait in the phenotype. The genotypic ratio is 1: 2 : 1, and the phenotypic ratio is 3: 1.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
In an individual which is heterozygous regarding a certain allele, it is not externally recognisable that it also has the recessive allele. But if the carrier has a child, the recessive trait appears in the phenotype, in case the descendant receives the recessive allele from both parents and therefore does not possess the dominant allele that ...
Haploinsufficiency is the standard explanation for dominant deleterious alleles. [ clarification needed ] In the alternative case of haplosufficiency , the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype as seen in the ...