Annotated Bibliography On Genetic Disease Project

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.

Bittles is an Adjunct Professor and Research Leader at Murdoch University in Australia and is the author of the book “Consanguinity in Context”. M.L Black is employed at the Centre for Human Genetics at Edith Cowan University in Australia. This online journal provides statistics on marriage among couples whom share ancestors.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

According to Berger (2014), a patient can receive genetic counseling to learn more about a condition/disease he or she may possibly be at risk for and may possibly pass onto their children (p. 88). A genetic counselor is educated and trained to describe to the patient the condition/disease, the benefits and drawbacks for taking the genetic test, the test results’ meaning, and how having the condition could affect their future children (Berger, 2014, p. 88). Then, the patient – not the genetic counselor – makes decisions about his or her next steps with respect to all the information they have been provided by the genetic counselor (Berger, 2014, p. 89).

Wiskott Aldrich Syndrome is a very rare, life threatening disorder which is found mostly in men.

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

According to Swales, a discourse community is deemed distinct for its members share a common goal, for how they utilize specific genres and lexis, and how they provide a specific kind of information to a specific audience. Genre are the means of communicating a specific kind of information to a specific audience. Anne Beaufort shares that in order for a “product” to be competent conceptual comprehension of her five knowledge domains is necessary (Beaufort 7). These five knowledge domains are: discourse community knowledge, subject matter knowledge, genre knowledge, rhetorical knowledge, and writing process knowledge. For the discourse community discussed in my extended writing project, the Molecular Medicine and Genetics community, a few commonly utilized genre are analyzed. These genres include research articles, research reports, and lab notebooks.

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

Genetic counseling is for older child bearing mothers seeking counseling for the best course to take with giving birth. In most cases this is for older women who are becoming mothers. It is common that the baby could be born with a hereditary disorder and genetic problems due to the mothers high chromosomal abnormalities. As a young mothers pregnancy it is 1 in every 200 pregnancies to have this problem, for older mothers the rate is 1 in every 20 pregnancies. (schonberg&tifft, 2007) Some disorders for the baby are common and controllable, such as blood disorders. But there is also high risk of premature birth or miscarriage. These extra genes include diseases like cystic fibrosis, muscular dystrophy, Huntington disease, and nervous system

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.

(Bailey, 2017) Had recently claimed that sex linked genetic diseases affect males more than females. If a trait of a human is sex-linked, it tends to be found only among males or only among females. This means that a sex-linked disease is any illness or abnormal condition that is determined by the sex chromosomes or by a defective gene on a sex chromosome. A broad research question, “how many sex-linked diseases affect males more than females?” was developed based on the initial claim. This was further refined to study a specific disease, which was decided on to be x-linked agammaglobulinemia, as this would narrow research and to gain further insight into how some sex-linked diseases can be extremely severe. Therefore, this essay proposes the following research question “does X-linked agammaglobulinemia exclusively occur in males?”

Genetic engineering has developed to target specific modifications in the genome of living organisms for a desired outcome. To assist in the process, the CRISPR/Cas9 system has been developed to create insertions and deletions in chosen genes allowing for the alteration and analysis of phenotypic changes resulting from the targeted mutations (Bassett et al., 2013). This is significant for determining the role of various proteins, examining methods to insert new genes into organisms, and for the potential to examine human disease models in organisms. For the purposes of this review article, the CRISPR/Cas9 system will specifically be talked about with regards to genetic modification of the Drosophila fruit fly due to the flies relative short life span and ability to design experiments over multiple generations in short time periods, as well as a comparison of the CRISPR/Cas9 system to alternate methods of genetic engineering.