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Are compound heterozygotes affected?

A mutation affecting only one allele is called heterozygous. A homozygous mutation is the presence of the identical mutation on both alleles of a specific gene. However, when both alleles of a gene harbor mutations, but the mutations are different, these mutations are called compound heterozygous.

What are homozygous and heterozygous alleles?

Homozygous: You inherit the same version of the gene from each parent, so you have two matching genes. Heterozygous: You inherit a different version of a gene from each parent. They do not match.

Is heterozygous recessive or dominant?

An organism with one dominant allele and one recessive allele is said to have a heterozygous genotype. In our example, this genotype is written Bb. Finally, the genotype of an organism with two recessive alleles is called homozygous recessive.

Which is an example of a heterozygous allele?

There are different versions of genes. If the two versions are different, you have a heterozygous genotype for that gene. For example, being heterozygous for hair color could mean you have one allele for red hair and one allele for brown hair. The relationship between the two alleles affects which traits are expressed.

Is TT a heterozygous or homozygous?

Genotype Definition Example
Homozygous Two of the same allele TT or tt
Heterozygous One dominant allele and one recessive allele Tt
Homozygous dominant Two dominant alleles TT
Homozygous recessive Two recessive alleles tt

Which is the best definition of a compound heterozygote?

Compound heterozygote: The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair. The human genome contains two copies of each gene, a paternal and a maternal allele. A mutation affecting only one allele is called heterozygous.

When do you have two dominant alleles you are a heterozygote?

If an individual has two dissimilar alleles (one dominant and one recessive (Aa)) for a locus, we call it heterozygote. The condition of having two different alleles for a gene is called heterozygous state. Compound heterozygote and double heterozygote are two types of heterozygous situations.

What causes compound heterozygosity at each gene locus?

But at each gene locus associated with the disease, there is the possibility of compound heterozygosity, often caused by inheritance of two unrelated alleles, of which one is a common or classic mutation, while the other is a rare or even novel one.

Why does compound heterozygosity have less penetrance?

Compound heterozygosity. In its compound heterozygous forms, the disease may have lower penetrance, because the mutations involved are often less deleterious in combination than for a homozygous individual with the classic symptoms of the disease. As a result, compound heterozygotes often become ill later in life, with less severe symptoms.