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A hereditary carrier ( genetic carrier or just carrier ), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
- Pedigrees
- Reading a pedigree
- Example: Autosomal dominant trait
- Example: X-linked recessive trait
- Common mistakes and misconceptions
Pedigrees are used to analyze the pattern of inheritance of a particular trait throughout a family. Pedigrees show the presence or absence of a trait as it relates to the relationship among parents, offspring, and siblings.
Pedigrees represent family members and relationships using standardized symbols.
By analyzing a pedigree, we can determine genotypes, identify phenotypes, and predict how a trait will be passed on in the future. The information from a pedigree makes it possible to determine how certain alleles are inherited: whether they are dominant, recessive, autosomal, or sex-linked.
To start reading a pedigree:
1.Determine whether the trait is dominant or recessive. If the trait is dominant, one of the parents must have the trait. Dominant traits will not skip a generation. If the trait is recessive, neither parent is required to have the trait since they can be heterozygous.
The diagram shows the inheritance of freckles in a family. The allele for freckles (F) is dominant to the allele for no freckles (f).
At the top of the pedigree is a grandmother (individual I-2) who has freckles. Two of her three children have the trait (individuals II-3 and II-5) and three of her grandchildren have the trait (individuals III-3, III-4, and III-5).
The diagram shows the inheritance of colorblindness in a family. Colorblindness is a recessive and X-linked trait (Xb) . The allele for normal vision is dominant and is represented by XB .
In generation I, neither parent has the trait, but one of their children (II-3) is colorblind. Because there are unaffected parents that have affected offspring, it can be assumed that the trait is recessive. In addition, the trait appears to affect males more than females (in this case, exclusively males are affected), suggesting that the trait may be X-linked.
•The presence of many affected individuals in a family does not always mean that the trait is dominant. The terms dominant and recessive refer to the way that a trait is expressed, not by how often it shows up in a family. In fact, although it is uncommon, a trait may be recessive but still show up in all generations of a pedigree.
•You may not always be able to determine the genotype of an individual based on a pedigree. Sometimes an individual can either be homozygous dominant or heterozygous for a trait. Often, we can use the relationships between an individual and their parents, siblings, and offspring to determine genotypes. However, not all carriers are always explicitly indicated in a pedigree, and it may not be possible to determine based on the information provided.
Genes are pieces of hereditary material that are passed from parents to offspring. Genes are part of cell structures called chromosomes. In multicellular organisms, chromosomes are found in the nucleus of the cell. Each of these chromosomes contains one, long molecule of DNA, or d eoxyribo n ucleic a cid.
- How many genes are in a cell?Around 50,000 genes. There are also 24 chromosomes (groups of genes) in every cell.
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Jul 31, 2022 · Two alleles for a given gene in a diploid organism are expressed and interact to produce physical characteristics. The observable traits expressed by an organism are referred to as its phenotype. An organism’s underlying genetic makeup, consisting of both physically visible and non-expressed alleles, is called its genotype.
So, a gene is a specific stretch of nucleotides within a chromosome’s DNA. DNA is made up of four types of nucleotides. These nucleotides are often called by their shortened names: A, C, T, and G (which stand for adenine, cytosine, thymine, and guanine). The nucleotides in a gene are connected in a specific order.
A carrier is a person who has one working copy of a gene and one non-working copy of a gene. This autosomal recessive pattern means that as long as a person has one working copy of a gene, they are generally healthy. On the other hand, if a person has two non-working copies, they will have the associated condition.
May 1, 2019 · Often, it is used to look at the transmission of genetic disorders. A pedigree is a diagram that depicts the biological relationships between an organism and its ancestors. It comes from the French “pied de grue” (“crane’s foot”) because the branches and lines of a pedigree resemble a thin crane’s leg with its branching toes.
