Maple Syrp 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.

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.

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and

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

The author Gail Gibbons was born in Oak Park, Illinois, in 1944. Even when she was a little child she was in love with books. She was always putting books together. She would make books and then try to bind them together with yarn to where the pages would hold. She wrote her first wordless picture book at the age of four. She was a very curious individual and she loved drawing and painting, and she always asked questions when she was young.

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.

TSD is common among those of Jewish decent, more specifically Ashkenazi Jews with an origin of Eastern European ancestry. Although these findings have caused TSD to be thought of as a Jewish disease, there have been occurrences in other populations, including French Canadians. There have been three unusual characteristics documented among those affected and being a part of the French Canadian population. One of the characteristics is that TSD patient were highly localized geography and there was a large amount of incidences in Eastern Quebec. The second characteristic is that TSD is caused by two mutant alleles. One of the alleles originating one the northern shore of St. Lawrence and the other on the south shore. The final characteristic is that TSD seems to be recent in its Canadian origin, as the two mutant alleles are not found in France. There have also been high incidences of TSD reported from three other population groups. The three groups can be found in Northern American and include: Louisiana Cajuns, the Dutch community in Pennsylvania, and people that are of Irish

Maple Syrup Urine Disease is a genetic disorder caused by mutation in the DBT, DLD, BCKDHB, and BCKDHA genes, which codes for Branched Chain Keto Acid Dehydrogenase (BCKD). Normally, BCKD would process the keto acid derivatives for leucine, isoleucine, and valine and continue them on their respective metabolic pathways. As a result of these breaks in the metabolic pathway, the patient may suffer from mental retardation, lethargy, poor feeding habits, vomiting, and seizures early in life. The name of this disease comes from its most distinctive symptom, the patient's urine having a burnt-caramel smell.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

had occurred in members of 2 sibships related as first cousins once removed. Although autosomal recessive

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).

Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted

This table helps show all the possible genotypes from one set of parents. The table shows that the genotypes purple and starchy are dominant, and the genotypes yellow and sweet are recessive.(stallsmith)

trace our client’s family tree and make corresponding legends that will show the hereditary diseases and the present status of our client’s family members;