A pedigree chart is a diagram that shows the occurrence and appearance of phenotypes [ jargon ] of a particular gene or organism and its ancestors from one generation to the next, [1] [2] [3] [ unreliable source? ] most commonly humans, show dogs, and race horses.
The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane [4] or because such a mark was used to denote succession in pedigree charts. [5]
A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called as a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown a diamond is used. Someone with the phenotype in question is represented by a filled-in (darker) symbol. Heterozygotes, when identifiable, are indicated by a shade dot inside a symbol or a half-filled symbol.
Relationships in a pedigree are shown as a series of lines. Parents are connected by a horizontal line and a vertical line leads to their offspring. The offspring are connected by a horizontal sibship line and listed in birth order from left to right. If the offspring are twins then they will be connected by a triangle. If an offspring dies then its symbol will be crossed by a line. If the offspring is still born or aborted it is represented by a small triangle.
Each generation is identified by a Roman numeral (I, II, III, and so on), and each individual within the same generation is identified by an Arabic numeral (1, 2, 3, and so on). Analysis of the pedigree using the principles of Mendelian inheritance can determine whether a trait has a dominant or recessive pattern of inheritance. Pedigrees are often constructed after a family member afflicted with a genetic disorder has been identified. This individual, known as the proband, is indicated on the pedigree by an arrow. [6] These changes may occur yearly or monthly.
In England and Wales pedigrees are officially recorded in the College of Arms, which has records going back to the Middle Ages, including pedigrees collected during roving inquiries by its heralds during the sixteenth and seventeenth centuries. The purpose of these heraldic visitations was to register and regulate the use of coats of arms. Those who claimed the right to bear arms had to provide proof either of a grant of arms to them by the College, or of descent from an ancestor entitled to arms. It was for this reason that pedigrees were recorded by the visitations. Pedigrees continue to be registered at the College of Arms and kept up to date on a voluntary basis but they are not accessible to the general public without payment of a fee.
More visible, therefore, are the pedigrees recorded in published works, such as Burke's Peerage and Burke's Landed Gentry in the United Kingdom and, in continental Europe by the Almanach de Gotha.
A pedigree may be used to establish the probability of a child having a particular disorder or condition. It may be used to discover where the genes in question are located (x, y, or autosome chromosome), and to determine whether a trait is dominant or recessive. When a pedigree shows a condition appearing in a 50:50 ratio between men and women it is considered autosomal. When the condition predominantly affects males in the pedigree it is considered x-linked. [7]
Some examples of dominant traits include: male baldness, astigmatism, and dwarfism. Some examples of recessive traits include: small eyes, little body hair, and tall stature. [8]
In the practice of selective breeding of animals, particularly in animal fancy and livestock, including horses, pedigree charts are used to track the ancestry of animals and assist in the planning of suitable breeding programs to enhance desirable traits. Breed registries are formed and are dedicated to the accurate tracking of pedigrees and maintaining accurate records of birth, death and identifying characteristics of each registered animal. [9]
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous.
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely.
In genetics, dominance is the phenomenon of one variant (allele) 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. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child. Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomplete dominance, in which a gene variant has a partial effect compared to when it is present on both chromosomes, and co-dominance, in which different variants on each chromosome both show their associated traits.
A crossbreed is an organism with purebred parents of two different breeds, varieties, or populations. Crossbreeding, sometimes called "designer crossbreeding", is the process of breeding such an organism. While crossbreeding is used to maintain health and viability of organisms, irresponsible crossbreeding can also produce organisms of inferior quality or dilute a purebred gene pool to the point of extinction of a given breed of organism.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
Sex linked describes the sex-specific reading patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness.
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.
X-linked ichthyosis is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.
In genetics, a reciprocal cross is a breeding experiment designed to test the role of parental sex on a given inheritance pattern. All parent organisms must be true breeding to properly carry out such an experiment. In one cross, a male expressing the trait of interest will be crossed with a female not expressing the trait. In the other, a female expressing the trait of interest will be crossed with a male not expressing the trait. It is the cross that could be made either way or independent of the sex of the parents. For example, suppose a biologist wished to identify whether a hypothetical allele Z, a variant of some gene A, is on the male or female sex chromosome. They might first cross a Z-trait female with an A-trait male and observe the offspring. Next, they would cross an A-trait female with a Z-trait male and observe the offspring. Via principles of dominant and recessive alleles, they could then make an inference as to which sex chromosome contains the gene Z, if either in fact did.
Chondrodystrophy refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. As a very general term, it is only used in the medical literature when a more precise description of the condition is unavailable.
Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia.
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine.
Progressive retinal atrophy (PRA) is a group of genetic diseases seen in certain breeds of dogs and, more rarely, cats. Similar to retinitis pigmentosa in humans, it is characterized by the bilateral degeneration of the retina, causing progressive vision loss culminating in blindness. The condition in nearly all breeds is inherited as an autosomal recessive trait, with the exception of the Siberian Husky (inherited as an X chromosome linked trait) and the Bullmastiff (inherited as an autosomal dominant trait). There is no treatment.
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder. In this case, someone who expresses an X-linked dominant allele will exhibit the disorder and be considered affected.
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.
Pseudodominance is the situation in which the inheritance of a recessive trait mimics a dominant pattern.
A hereditary 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.
An obligate carrier is an individual who may be clinically unaffected but who must carry a gene mutation based on analysis of the family history; usually applies to disorders inherited in an autosomal recessive and X-linked recessive manner.
The popular sire effect occurs when an animal with desirable attributes is bred repeatedly. In dog breeding, a male dog that wins respected competitions becomes highly sought after, as breeders believe the sire possesses the genes necessary to produce champions. However, the popular sire effect is not just down to wanting to produce a champion. For example, in Staffordshire Bull Terriers there are several popular sires who are used by breeders to produce specific colours that are not favoured in the show ring. The popular sire is often bred extensively with many females. This can cause undetected, undesirable genetic traits in the stud to spread rapidly within the gene pool. It can also reduce genetic diversity by the exclusion of other males.