Adenosine Deaminase Deficiency Research Paper

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

Even if this disorder is uncommon it’s important to know the basics about it to prevent severe damage in the future. Severe Combined Immunodeficiency (SCID) was first reported by Edward Glanzmann and Paul Riniker in 1950. They were treating two Swiss infants with the condition, lymphopenia, which is an abnormal low level of lymphocytes in the blood. They died of infection within a year. (Buckley). Although, it wasn’t until 1980 when the public became aware of the disorder. There was a well-known baby who was diagnosed with SCID that year. There were a lot of news stories about a “bubble boy” who was born without a working immune system. His brother was also born with the same

With an abnormal number of repeats the trinucleotide sequence becomes more unstable and disease symptoms grow to be more visible. Myotonic dystrophy II (DM2) is a mutation of cellular nucleic acid binding protein (CNBP), or zinc finger protein 9. The functions of both proteins, CNBP and DMPK are uncertain, however they can be found in multiple organs and tissues in the body, including the brain, cardiac, and skeletal muscles (Ueada, Ohno & Kobayashi, 2000). Myotonic dystrophy is located on chromosome 19q13.3 and is a result of an abnormal repeat of the DNA sequence. According to Mckusick & Hartz (1986) People with DM2 can have from 75 to more than 11,000 CCTG repeats. Both DM1 and DM2 are autosomal dominant inheritable disease, which can be passed along to offspring if the parent is affected, at a 50% probability. Myotonic dystrophy is unique from most provided that “disease-causing alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent” (Bird et al., 1999).

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.

This is caused by mutation of gene that activates an enzyme called the adenosine deaminase (ADA). ADA is important for the metabolic function of the body and for T-cells to function. Te enzyme regulation is important to ensure metabolic by products removal from the body. If metabolic by products are accumulated in the body, lymphocytes accumulate them and are denatured. ADA SCID is inherited as an autosomal recessive trait. Male and females are both affected by this type of SCID.

The mode of inheritance of sickle cell anaemia is autosomal recessive. This type of inheritance means that the child will not get the disease if both of the parents does not pass down the genes which are defect.

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

Tyler Roberts, a four-year-old boy from Arlington, Texas, was diagnosed with Schwachman-Diamond Syndrome at 14 months old. At birth, Tyler was observed to have a skeletal abnormality and as time progressed developed bone marrow dysfunction, exocrine pancreatic insufficiency, and complications with his immune system. After determining his genomic sequence, it was found that the SBDS gene of Tyler’s 7th chromosome was non-functional. Further observation showed two mutations in 183-184 positions and the 258 position of the SBDS gene. It was proposed to cure his disease by adding a functional SBDS gene to Tyler’s bone marrow cells through the use of an adeno-associated virus vector.

Choice “B” is not the best answer. An autosomal recessive disorder develops when two copies of an abnormal gene are passed onto the offspring. Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

In SCD, a mutation commonly appears in the beta chain, causing the sixth amino acid, a nucleotide

The inherited form of the deficiency is caused by a gene mutation in the BTD gene, which is responsible for making an Biotinidase enzyme. Newborns are screened for this deficiency in at least 25 countries. The deficiency is an autosomal-recessive inheritance meaning the

Natives” (Genetics home reference). It is also very rare in Asians. This deficiency is inherited and could possibly have non-genetic causes, and it takes place in the

This condition is caused by a genetic mutation. The condition develops in people who inherit the mutation from each of their parents.

The second most common form of SCID is Adenosine Deaminase Deficiency (ADA). ADA is an autosomal recessive metabolic disorder that causes an immunodeficiency that is severe enough to be considered SCID. This deficiency is caused by a genetic mutation on the ADA gene. Adenosine Deaminase is an enzyme that breaks down deoxyadenosine into deoxyinosine. The mutation eliminates the use of adenosine deaminase and allows the build-up of deoxyadenosine, which is fatal to lymphocytes. Without lymphocytes, the person cannot fight infections and develop the immune issues associated with SCID. This form of SCID is present in about 15% of cases, and affects only 1 in 200,000 to 1,000,000 newborns worldwide.

There are many types of disorders and diseases caused by a mutation in the human genome, a fundamental building block of DNA. Achondroplasia has been classified for a long period of time, but it was only around twenty years ago that the cause was discovered. This disorder happens to be caused by a simple change of base in an autosomal chromosome. This is commonly a transitional mutation that causes a simple change in protein structure. Most of the individuals with Achondroplasia have similar mutations at a common nucleotide. Achondroplasia is a classification of dwarfism, which is a genetic disorder that causes a mutation on an autosomal chromosome with a change in a single nucleotide.