What´s Autosomal Dominant Disease?

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

Phenotypes can be both dominant and recessive. The dominant phenotype is the one that the you possess whereas the recessive one is there but it is not active. One of my phenotypes is that I have red-green color blindness. I often argue with people about the colors that I see, so I took a colorblind test.

Most people with Huntington's disease develop signs and symptoms in their 40s or 50s, but the onset of disease may be earlier or later in life. When disease onset begins before age 20, the condition is called juvenile Huntington's disease. Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Human cells carry two copies of each chromosome they have two versions of each gene and the different versions are called alleles. Alleles can be either dominant or recessive. Dominant alleles means you have one copy of the gene or your heterozygous. Recessive alleles means you have two copies of the gene or your homozygous.

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

2014). There has also been observed phenotypic heterogeneity among common mutations that ware documented within families, this despite specific phenotypes being associated with those known mutations (Zou et al. 2014). The study performed concludes that EOAD is a highly heritable disease, though not necessarily a polygenic disease like it was originally thought (Wingo et a2012). Due to the high heritability rate found in the study, from 92-100%, it is deduced that EOAD is almost completely based within genetic factors. In the Wingo et al. (2012) study, a concordance of less than 10% was found between parent and their offspring, thus suggesting that EOAD is caused by a single autosomal recessive locus. An explanation for this given is that about 10% is due to the autosomal dominant, while the rest of the cases are either a recessive allele at a single locus or smaller number of loci that presents in women but has less penetrance in males (Wingo et al.

Cystic Fibrosis is an autosomal recessive inherited disease (30. Meaning that there needs to be a presence of two abnormal or mutated genes to cause Cystic Fibrosis, one from mother and one from the father (3). Thus, the normal gene is dominant over the recessive mutated gene (2). These genes are only inherited from parents who are carriers (Gg) or have the disease (gg) (3). Carriers of Cystic Fibrosis have the presence of the mutated gene (g) but do not have Cystic Fibrosis (3). If two people who are carriers of Cystic Fibrosis (Gg) reproduce, their offspring have a 25% chance of getting Cystic Fibrosis (1).

This disease is inherited from parents, and it is dominant, meaning only one copy of the gene is needed to develop this disorder. It is extremely rare and it affects less than 0.01% of people of European ancestry. See figure 2 for heredity patterns.

Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.

Although the majority of disease are contained in recessive alleles, porphyria occurs in dominant alleles as well (Daempfle, 2016). The two forms of this disease are autosomal dominant pattern (AIP), and autosomal recessive patterns (congenital). The recessive pattern of porphyria may lay dormant within the carrier, and would require another donor with the recessive patterns before their offspring could exhibit the symptoms. However, if there are homozygous dominant or heterozygous alleles possessing porphyria then the