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CSNB / Leopard Spotting

The Appaloosa spotting pattern, also known as Leopard Complex spotting (LP) includes a highly variable group of white spotting- or depigmentation patterns in horses. Appaloosa horses have three additional identifiable characteristics: mottled skin around the muzzle, anus and genitalia, striped hooves and white sclera round the eyes. The Appaloosa pattern is the result of an incompletely dominant mutation in the TRPM1 gene, also known as the LP gene. The LP gene allows for the expression of the various leopard complex spotting patterns while other genes determine the extent (or amount) of white. The CSNB / Leopard Spotting test (P311) tests for the status of the LP (TRPM1) gene. This gene has two variants (alleles). The allele LP is incomplete-dominant and expression of the Appaloosa pattern is variable, ranging from absent to extremely white patterning. At least one copy of the LP allele allows the expression of the Appaloosa pattern. The amount of white present is not dosage related, horses with two copies of the LP allele can have minimal expression of white patterning. The recessive allele N does not have an effect on the basic colour. The variability in the amount of white on Appaloosa-coloured horses is controlled by other genes, one of which is PATN1. Horses that have one copy of the LP allele, in combination with at least one copy of the PATN1 allele most often have a Leopard or a near Leopard pattern. Horses that have two copies of the LP allele in combination with at least one copy of the PATN1 allele most often have a Few-spot or near Few spot pattern. Horses that have two copies of the LP allele suffer from Congenital Stationary Night Blindness (CSNB), which is the inability to see in low to no-light conditions.

The CSNB / Leopard Spotting test encloses the following results, in this scheme the results of the CSNB / Leopard Spotting test are shown in combination with the possible results for the Coat Colour Appaloosa Pattern-1 (PATN1) test.

Result LP

Result PATN1

Coat Colour

Description

N/N

N/N

No Appaloosa

The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/LP

N/N

Blanket appaloosa

It can pass on either allele N or LP to its offspring.

LP/LP

N/N

Snow cap appaloosa

It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)

N/N

N/PATN1

No Appaloosa

The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring..

N/LP

N/PATN1

Leopard or a near Leopard pattern

It can pass on either allele N or LP to its offspring.

LP/LP

N/PATN1

Few-spot or near Few spot pattern.

It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)

N/N

PATN1/PATN1

No Appaloosa

The basic colour is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/LP

PATN1/PATN1

Leopard or a near Leopard pattern

It can pass on either allele N or LP to its offspring.

LP/LP

PATN1/PATN1

Few-spot or near Few spot pattern

It can only pass on allele LP to its offspring. The horse suffers from Congenital Stationary Night Blindness (CSNB)

CombiBreed Alaskan Malamute

Questo pacchetto combinato è progettato per fornirti informazioni vitali sulla salute genetica, sui tratti e sulla diversità del tuo cane e include test del DNA per numerose malattie e/o caratteristiche importanti. Inoltre calcoliamo anche il coefficiente di consanguineità (COI) e la percentuale di eterozigosi del DNA del tuo cane. Il COI mostra il grado di consanguineità del tuo cane, mentre la percentuale di eterozigosi è una misura della diversità genetica individuale del tuo cane.

Le informazioni sui singoli test in questo pacchetto sono disponibili nella sezione ‘Test inclusi’ in questa pagina. Accettiamo campioni di animali di qualsiasi età. Normalmente, il tempo di consegna dei test eseguiti presso le nostre strutture è di 10 giorni lavorativi dal ricevimento del campione. Per i test in outsourcing, i cosiddetti “Laboratorio esterno” o “Laboratorio esterno con brevetti”, il tempo di consegna è di almeno 20 giorni lavorativi dal ricevimento del campione. Si prega di notare che i 20 giorni lavorativi menzionati sono una stima, poiché i tempi di spedizione a questi laboratori esterni o strutture brevettuali possono variare a causa di ritardi imprevisti.

Alcuni test inclusi sono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come clienti e il laboratorio esterno. In questi casi, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.

CombiBreed Golden Retriever

Questo pacchetto CombiBreed è progettato per fornirti informazioni vitali sulla salute genetica, le caratteristiche e la diversità del tuo Golden Retriever e include test del DNA per numerose malattie e/o tratti importanti. Inoltre, calcoliamo anche il Coefficiente di Consanguineità (COI) e la percentuale di Eterozigosi del DNA del tuo cane. Il COI mostra il grado di consanguineità del tuo cane, mentre la percentuale di eterozigosi è una misura della diversità genetica individuale del tuo cane.

Le informazioni sui singoli test di questo pacchetto sono disponibili nella sezione “Test inclusi” di questa pagina. Accettiamo campioni da animali di qualsiasi età. Normalmente, il tempo di consegna dei test eseguiti presso le nostre strutture è di 10 giorni lavorativi dal ricevimento del campione. Per i test esternalizzati, i cosiddetti “laboratori esterni” o “laboratori esterni di brevetti”, il tempo di consegna è di almeno 20 giorni lavorativi dal ricevimento del campione. Si prega di notare che i 20 giorni lavorativi menzionati sono una stima, poiché i tempi di spedizione a questi laboratori esterni o strutture di brevetto possono variare a causa di ritardi imprevisti.

Alcuni test inclusi vengono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come cliente e il laboratorio esterno. In questi casi, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.

CombiBreed Spitz Tedesco (Regolare)

Questo pacchetto combinato è progettato per fornirti informazioni vitali sulla salute genetica, i tratti e la diversità del tuo cane e include test del DNA per numerose malattie e/o tratti importanti. Inoltre, calcoliamo anche il Coefficiente di Consanguineità (COI) e la percentuale di Eterozigosi del DNA del tuo cane. Il COI mostra il grado di consanguineità del tuo cane, mentre la percentuale di eterozigosi è una misura della diversità genetica individuale del tuo cane.

Le informazioni sui singoli test di questo pacchetto sono disponibili nella sezione “Test inclusi” di questa pagina. Accettiamo campioni da animali di qualsiasi età. Normalmente, il tempo di consegna dei test eseguiti presso le nostre strutture è di 10 giorni lavorativi dal ricevimento del campione. Per i test esternalizzati, i cosiddetti “laboratori esterni” o “laboratori esterni di brevetti”, il tempo di consegna è di almeno 20 giorni lavorativi dal ricevimento del campione. Si prega di notare che i 20 giorni lavorativi menzionati sono una stima, poiché i tempi di spedizione a questi laboratori esterni o strutture di brevetto possono variare a causa di ritardi imprevisti.

Alcuni test inclusi vengono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come cliente e il laboratorio esterno. In questi casi, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.

Pacchetto Combinato CombiBreed Barock Pinto

Questo pacchetto combinato include diverse malattie e tratti importanti. Le informazioni sui singoli test sono disponibili tramite i link ai test del DNA. Accettiamo campioni di animali di qualsiasi età. Normalmente, il tempo di consegna dei test eseguiti presso le nostre strutture è di 10 giorni lavorativi dopo il ricevimento del campione presso il laboratorio di prova. Per i test in outsourcing, i cosiddetti “Laboratorio esterno” o “Laboratorio esterno con brevetti”, il tempo di consegna è di almeno 20 giorni lavorativi dal ricevimento del campione. I 20 giorni lavorativi indicati sono una stima, perché i tempi di spedizione a questi laboratori esterni o laboratori brevettuali esterni possono variare a causa di ritardi imprevisti.
Alcuni test inclusi sono eseguiti da un laboratorio esterno. CombiBreed si occupa della mediazione tra voi come clienti e il laboratorio esterno. In questo caso, CombiBreed non può essere ritenuta responsabile per il comportamento del cliente e/o dell’appaltatore.

Deficit di mieloperossidasi

Il deficit di mieloperossidasi (MPOD) è una malattia che colpisce i globuli bianchi, osservata nel Segugio Italiano (es. Levriero Italiano, Segugio Italiano). È causata da una mutazione recessiva del gene MPO.

Malformazione congenita degli occh

La malformazione congenita degli occhi si verifica in diverse razze e può avere diverse origini genetiche. Nel Golden Retriever è descritta una malattia dell’occhio molto variabile causata dalla mutazione di un singolo gene. Questo carattere ha penetranza incompleta, questo vuol dire che animali portatori e affetti spesso, ma non sempre è garantito, presentano anomalie agli occhi. La malformazione di uno o entrambi gli occhi può variare da menomazione visiva, occhi erranti (nistagmo), cataratta, distacco della retina a deformazioni del cristallino, cornea e/ o retina.

Questa mutazione può essere testata dal nostro test per la Malformazione congenita degli occhi (test numero H727) ed è anche stata aggiunta al pacchetto CombiBreed per i Golden Retriever (test numero H322).

Sordità ad esordio tardivo nell’adulto EAOD (4 marcatori associati) – Border Collie

La sordità ad esordio precoce in età adulta (EAOD) è un disturbo dell’udito nei Border Collie. Mentre l’ipoacusia legata all’età inizia in genere intorno agli 8-10 anni, l’EAOD ha un esordio precoce a 3-5 anni. Per i Border Collie da lavoro, l’EAOD è particolarmente problematico, poiché anche lievi differenze nella percezione del tono sono essenziali per la loro capacità di svolgere i compiti. Pertanto, anche una perdita uditiva moderata può influire in modo significativo sulla loro capacità lavorativa, sebbene non abbia altre gravi conseguenze (mediche).

Testiamo quattro varianti genetiche che sono fattori di rischio per la sordità progressiva nei Border Collie. Queste varianti si trovano in tre geni: il gene USP31, che è coinvolto nella mitigazione del danno tissutale nell’orecchio, il gene HS3ST2, che può svolgere un ruolo nella funzione cerebrale e il gene RBBP6, che svolge un ruolo importante nello sviluppo dell’orecchio.

La perdita graduale dell’udito si osserva nei cani di età compresa tra 3 e 5 anni, che colpisce entrambe le orecchie. Potresti notare i seguenti segni e cambiamenti comportamentali nel tuo cane: cambiamenti nei modelli di sonno, cambiamenti nell’abbaiare, aumento delle risposte di sorpresa ai fattori ambientali, disobbedienza e/o meno saluti.

Distrofia Muscolare (MD) – Bulldog francese

Muscular Dystrophy (MD) is a hereditary neuromuscular disorder caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene. This gene encodes dystrophin, a protein essential for maintaining the structural stability of muscle fibres. Without functional dystrophin, muscle cells become fragile and gradually degenerate, leading to chronic muscle weakness and muscle wasting. In the French Bulldog, this condition is inherited in an X‑linked manner, meaning male dogs are typically more severely affected.

Neuropatia di Charcot-Marie-Tooth (CMT, ITPR3-correlata) – Lancashire Heeler

La neuropatia di Charcot-Marie-Tooth (CMT) è un gruppo di malattie neurologiche ereditarie che colpiscono il sistema nervoso periferico. Una mutazione autosomica recessiva in un gene chiamato recettore dell’inositolo 1,4,5-trisfosfato di tipo 3 (ITPR3) è stata collegata alla CMT. Il gene ITPR3 è coinvolto nella regolazione del rilascio di calcio dalle riserve cellulari interne, che è fondamentale per la funzione delle cellule nervose. Quando questo gene è mutato, può portare alla degenerazione dei nervi periferici, influenzando la comunicazione tra il cervello e i muscoli. Questa variante di CMT si trova nella razza Lancashire Heeler.

Deficit del fattore XII (2 varianti)

Il deficit di fattore XII, noto anche come deficit di Hageman, è la coagulopatia congenita più comune nei gatti domestici. La coagulazione del sangue (coagulazione) è regolata da una complessa cascata di proteine plasmatiche, un processo essenziale che previene il sanguinamento nel sito della lesione.

Una di queste proteine chiave è il fattore XII della coagulazione (noto anche come FXII, F12 o fattore 12). Le mutazioni nel gene F12 interrompono la normale funzione di FXII, portando a un prolungamento del tempo di tromboplastina parziale attivata (aPTT) e del tempo di coagulazione attivata (ACT). Due varianti note (147 e 533) sono associate a una perdita ridotta o completa dell’attività di FXII, con conseguente compromissione della coagulazione del sangue. La variante 147 è più diffusa, mentre la variante 533 è meno comune ma ugualmente grave.

Entrambe le varianti causano deficit di FXII, portando all’assenza o a una significativa riduzione del fattore XII rilevabile nel plasma felino. I gatti omozigoti per entrambe le mutazioni hanno una grave carenza e sono a maggior rischio di sanguinamento eccessivo dopo l’intervento chirurgico o anche di traumi minori. I gatti eterozigoti mostrano generalmente una moderata riduzione dell’attività di FXII, sebbene siano stati riportati anche lievi segni clinici.

In letteratura, è suggerito un modello di trasmissione autosomica recessiva. Tuttavia, sono stati descritti anche segni clinici lievi nei gatti eterozigoti. Se sia la variante 147 che la variante 533 sono presenti in uno stato eterozigote, non viene prodotta alcuna proteina FXII funzionale e il gatto è considerato omozigote affetto.

Ittiosi – Tipo Jack Russell Terrier

L’ittiosi (nota anche come ittiosi epidermolitica e ittiosi lamellare) è una malattia ereditaria della pelle, nei Jack Russell Terrier e nelle razze affini è causata da una mutazione autosomica recessiva nel gene della transglutaminasi 1 (TGM1). Questo gene codifica per un enzima essenziale per la formazione della barriera cutanea, in quanto aiuta a legare le proteine strutturali e i lipidi nello strato esterno della pelle. La mutazione porta a una perdita o riduzione dell’attività enzimatica, con conseguente alterazione della barriera cutanea. I cani colpiti in genere sviluppano segni all’inizio della vita, che possono includere anomalie della pelle e del pelo come secchezza, desquamazione o consistenza alterata. Sebbene la condizione non sia pericolosa per la vita, può causare irritazione cronica della pelle e infezioni secondarie e richiede una gestione continua per mantenere la salute della pelle.

Colore del mantello Locus-W (gene KIT bianco dominante)

Sia il bianco dominante (DW) che il White Spotting (Ws) sono controllati dal gene KIT. Il bianco dominante è anche indicato come W-locus, mentre il White Spotting è noto come S-locus. Il gene KIT ha tre varianti (alleli), il che significa che sia DW che Ws sono inclusi in questo test. L’allele DW è dominante su entrambi gli alleli Ws e N (normale) e l’allele Ws è dominante sull’allele N.

CLAD (deficit di adesione leucocitaria canina) di tipo I – Setter irlandese

Il deficit di adesione leucocitaria canina (CLAD) è una malattia da immunodeficienza fatale. Si tratta di una condizione genetica causata da mutazioni specifiche in geni cruciali per le funzioni piastriniche e delle cellule del sangue. Queste mutazioni provocano un’anormale coagulazione del sangue e risposte del sistema immunitario nei cani affetti. Questa variante della malattia, CLAD di tipo I, è causata da una mutazione recessiva nel gene ITGB2, che codifica per la subunità leucocitaria dell’integrina beta-2 (CD18). La malattia é stata ritrovata nel Setter Irlandese.

Agouti

Each horse has a basic colour, which can be black, bay/brown or chestnut. These basic coat colours are controlled by the Extension and Agouti genes. The Agouti gene (A-locus) controls the distribution of black pigment. The pigment can be uniformly distributed or distributed to the “points” of the body (mane, tail, lower legs and inside the ears). The Agouti gene has no effect on horses that are homozygous ee for the Extension gene as black pigment has to be present for agouti to have an effect. The Coat Colour Agouti test (P907) tests for the genetic status of the Agouti gene. The Agouti gene has two variants (alleles). The dominant allele A restricts black pigment to the points of the horse (for example in bays and buckskins) and the recessive allele a uniformly distributes black pigment over the entire body. Only when the horse has two copies of the recessive allele a (homozygous aa), the black pigment is evenly distributed. The black pigment is distributed into the points if at least one copy of the allele A is present. All horses, regardless of their coat colour do have the genetics for the distribution of black pigment, but it’s not always physically visible.

The Coat Colour Agouti test encloses the following results, in this scheme the results of the Coat Colour Agouti test are shown in combination with the possible results for the Coat Colour Chestnut test:

Result Agouti

Result Chestnut

Coat Colour

Description

a/a

E/E or E/e

Black

Only the recessive allele a was detected. The black pigment is distributed uniformly. If the horse is not e/e for the Extension gene, the basic colour is black unless modified by other colour modifying genes. It can only pass on allele a to its offspring.

a/a

e/e

Chestnut, Sorrel

Only the recessive allele a was detected. The black pigment is distributed uniformly. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele a to its offspring.

A/a

E/E or E/e

Bay, Brown

The horse is tested heterozygous for Agouti. The black pigment is distributed into the points. If the horse is not e/e for the Extension gene, the basic colour is bay or brown unless modified by other colour modifying genes. It can pass on either allele A or a to its offspring.

A/a

e/e

Chestnut, Sorrel

The horse is tested heterozygous for Agouti. The black pigment is distributed into the points. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can pass on either allele A or a to its offspring.

A/A

E/E or E/e

Bay, Brown

Only the dominant allele A was detected. The black pigment is distributed into the points. If the horse is not e/e for the Extension gene, the basic colour is bay or brown unless modified by other colour modifying genes. It can only pass on allele A to its offspring and therefore cannot produce black foals.

A/A

e/e

Chestnut, Sorrel

Only the dominant allele A was detected. The black pigment is distributed into the points. Because the horse is e/e for the Extension gene, the basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele A to its offspring and therefore cannot produce black foals.

Grey

A horse that inherits a Grey coat colour can be born in any colour. The grey gene causes progressive depigmentation (fading) of the hair and is considered to be the “strongest” of all coat colour modifying genes. The depigmentation process may last for years, but once the hair is depigmented, the original colour will never return. Some grey horses become completely white whereas others will keep tiny non-faded spots (also called fleabites). A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Grey test (P807) tests for the genetic status of the STX17 gene. This gene has two variants (alleles). The dominant allele G results in the Grey coat colour and the recessive allele N does not have an effect on the basic colour. The dominant allele G has a duplication of a part of the DNA. The test does not discriminate between horses carrying 1 or 2 copies of  the duplication (N/G or G/G). All horses carrying the duplication will turn grey.

The Coat Colour Grey test encloses the following results, in this scheme the results of the Coat Colour Grey test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Grey

Result Chestnut + Agouti

Coat Colour

Description

N/N

e/e + A/A, A/a or a/a

 

Chestnut, Sorrel

Horse will not turn grey. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/N

E/E or E/e + A/A or A/a

Bay, Brown

Horse will not turn grey. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/N

E/E or E/e + a/a

Black

Horse will not turn grey. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/G or G/G

e/e + A/A, A/a or a/a

 

Grey (born chestnut/sorrel)

Horse is born with basic colour chestnut/sorrel (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring.

N/G or G/G

E/E or E/e + A/A or A/a

Grey (born bay/brown)

Horse is born with basic colour bay/brown (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring.

N/G or G/G

E/E or E/e + a/a

Grey (born black)

Horse is born with basic colour black (unless modified by other colour modifying genes) and will turn grey. One copy or two copies of the G allele. It can pass on either allele N or G to its offspring.

Overo-factor (OLWS)

The Overo coat pattern is a white spotting pattern with white patches on the side with a “frame” of colour surrounding the white. A horse can also carry mutations for other modifying genes which can further affect its coat colour. While Overo coloured horses are desirable, the mutation that causes the overo colour is linked to a fatal condition known as Overo Lethal White Syndrome or OLWS. A foal with OLWS is born all- white and dies of complications from intestinal tract abnormalities. The Coat Colour Overo test (P902) tests for a genetic factor that affects the function of the EDNRB gene. This gene has two variants (alleles). The allele O is semi-dominant. One copy of the O allele results in horses with overo coat pattern. Two copies of the O allele result in a lethal white foal (OLWS). The allele N is recessive and does not have an effect on the basic colour.

The Coat Colour Overo-factor test encloses the following results, in this scheme the results of the Coat Colour Overo-factor test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Overo-factor

Result Chestnut + Agouti

Coat Colour

Description

N/N

e/e + A/A, A/a or a/a

 

Chestnut, Sorrel

 

Not Overo. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/N

E/E or E/e + A/A or A/a

Bay, Brown

Not Overo. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/N

E/E or E/e + a/a

Black

Not Overo. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.

N/O

e/e + A/A, A/a or a/a

 

Chestnut/sorrel overo

Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring.

N/O

E/E or E/e + A/A or A/a

Brown/bay overo

Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring.

N/O

E/E or E/e + a/a

Black overo

Overo pattern. One copy of the O allele. The horse has the desirable frame overo pattern unless modified by other colour modifying genes. It can pass on either allele N or O to its offspring.

O/O

Any result

Lethal (OLWS)

Foal with Overo Lethal White Syndrome (OLWS), lethal.

Introduction to Genetics

History

Since the 19th century experiments have been conducted on the heredity of various organisms. The heredity was determined by observations of organisms – that the next generation gets one copy from each factor from each parent, and subsequently passing the factor on to following generations (Durmaz et al., 2015). The factors include for example colour, height, or shape of the organism. Pioneers Gregor Mendel and Augustinian Friar were scientist studying genetics scientifically. Gregor Mendel performed breeding experiments with hybridizing pea plants, in which different traits were traced. The traits included colour of the plants and round or wrinkled peas. The pioneer, after reporting the first breeding experiments, died in 1884. Little did he know that he would end up in biology textbooks.

Astounding results were observed by Mendel, the scientist saw traits were independently transmitted from each other (Dijk, Weissing, & Ellis, 2018). The independent transmission of traits is based on the position of genes on the corresponding chromosome. The progeny receives half of the chromosomes of both parents. If the gene is positioned on a chromosome – which is not passed down the lineage – the progeny does not express the gene. Therefore, if an experiment is conducted on various traits encoded by the corresponding genes. The progeny expresses different variation of traits in contrast to the parents.

Although, Mendel started the experiments on heredity of organisms. The scientist did not introduce the words “genetics” or “gene”. Later in the 20th, the scientific community century begun to focus on more breeding related experiments, and thereby referring to the results indicated by Mendel. The heredity of organisms would be called “genetics” and the factor that expresses the trait of a species was described as “gene” (Portin, Wilkins, 2017). It was the start of a new discipline in the scientific community.

Introduction to genetics

The introduction of the study genetics leaded to genetic research on a more molecular level. The molecular level experiments were more focussed on the structure and biosynthetic pathways that are needed to express a certain trait. In the first stages of genetic research on various structures and biosynthetic pathways, scientists suggested corresponding proteins were responsible for the induction of the perceived traits. However, following-up research leaded to the – todays well known double helix structured DNA – to be the encoding factor that expresses the perceiving trait.

Nowadays, DNA structures, which have the typical double helix structure, are seen everywhere. Genetic research elucidated more specification on the structure of the DNA strand and stated DNA was an information molecule (Travers & Muskhelishvili, 2015). The DNA strands are made up of so called “nucleic acids”, which are based on four nucleotides adenine (A), thymine (T), cytosine (C) and guanine (G). Groups of nucleic acids, three nucleotides, encode for the amino acids and amino acids are consecutive the basis of entire chromones. As it has been highlighted in modern society are the Homo Sapiens exist of 46 chromosomes. The chromosomes are the building blocks of the human genome.

Mutations and phenotypes

Progressive research broadened the insights on the DNA structures of various species. The DNA structure consists of information molecules, which encode for structural or active biosynthetic systems were the organisms are made up on. Genetic research has indicated changes on the prescribed encoded DNA strand. The changes are called mutations. Mutations are alterations in the DNA strand. The mutations can change a trait such as eye colour, skin colour or height. These traits are all observative characteristics that can be seen by the eye, also called phenotypes. Therefore, when a gene is mutated, the phenotype also changes. Besides, there are non-observative characteristics, which are alternation of the gene that are not visible by the human eye. Mutation for example organ failures, diabetes, or heart defects.

Mutations are commonly experienced as something that should not occur. However, there are multiple outcomes at alternations of DNA, the mutation did not express in a coding region, and therefore no phenotypical changes are witnessed. The alternation has taken place in an active coding region, and subsequently effecting the phenotype of an organism. These are the most common interpretations of DNA alternations.

Implementations of DNA alternations

Implementations of DNA mutations is commonly used in modern society. DNA mutation can be used as genetic markers for the identification of genetic variation, hereditary carriers and dominant inherent. Genetic variation in animals is experienced in everyday life, since every animal has a unique genotype that encodes for a unique phenotype that can be seen. Heredity carriers are more scientifically substantiated as where in the phenotype is not visible by the human eye. In general, the terms recessive and dominant are mostly used. Recessive means the organism has inherited the recessive allele (certain region of DNA) and dominant indicates the organisms has inherited the dominant allele.

The Hereditary carrier

The hereditary carrier is an organism which has inherited a recessive allele for a specific trait, but generally does not express the trait. Although the trait is not expressed by the organism, the organism is able to pass the allele on to the next generation. This way, a specific mutation can be present in multiple generations without noticing. Another possibility is in which the organisms have a dominant inherited allele. When an organism has a dominant and recessive allele for a specific allele, the dominant allele will be expressed. Nevertheless, if a hereditary carrier inherits a recessive allele for the specific trait it carries. This will result in the expression of the inhibited trait.

Punnet Square

The well-known Punnet Square identifies the percentual change of an organism to be homozygote dominant (AA), homozygote recessive (aa) or heterozygote (Aa) (Edwards, 2012). If both parents are carriers and heterozygote the outcome would be 25% homozygote, 25% homozygote and 50% heterozygote. Resulting an allele mutation on the dominate allele would lead to 75% expression on the next generation. However, if the allele mutation was on the recessive allele only 25% of the next generation would express the recessive allele. In addition, spontaneous alternations can also cause genetic variation on alleles, and therefore lead to unexpected results. As for example the Punnet square is used to determine the percentual chance of the lineages genotype. A spontaneous alternation can change a phenotype, for example the hair colour. The linage can have different phenotypes then the ancestors if the breeding continues with the mutation.

Karyotyping

Alleles are specific regions on the chromosome of an organism. The chromosome can be visualized using the technique karyotyping. During karyotyping all the chromosomes are coloured, and subsequently counted and examined using a microscope. Malfunctions in the chromosome assembly can be identified as irregularity of chromosomes or sometimes the number of chromosomes can be reduced or increased. Karyotyping is one of VHLGenetics genotyping techniques.

Business view

VHLGenetics DNA testing is performed at two laboratories. The head office is in Wageningen, the other laboratory is in Germany. DNA tests are performed under various accreditations, certifications, and memberships of organizations such as ICAR and IS. The main goal of VHLGenetics is to provide optimal DNA services for their customers. The core competence is the standardization of work processes in the laboratories. This while remaining flexibility in adding new tests and technologies to the portfolio. The DNA services have been developed from knowledge and experience gained in the last 30 years. DNA services are offered in a wide variety including plants and animals. The service involves mainly KASP, real-time PCR, capillary electrophoresis, and Thermo Fisher Scientific Targeted Genotyping by Sequencing®.

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Ittiosi – Tipo Bulldog Americano

L’ittiosi è una malattia della pelle che causa prurito, perdita di capelli e formazione di “squame” secche. Lascia anche la pelle vulnerabile all’infezione da lieviti. Questa variante del disturbo, nota come ittiosi congenita autosomica recessiva (ARCI), si trova nel Bulldog americano e nel Bully americano. È causata da una mutazione recessiva del gene NIPAL4.

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