Extra Credit Assignment From the following website of the Human Genome Project (
ID: 168607 • Letter: E
Question
Extra Credit Assignment
From the following website of the Human Genome Project (cut and paste this link into your browser):
http://www.genetests.org/disorders/?tab=2
This will bring you to a list of genetic disorders listed in alphabetical order. Pick one that you find interesting but does not involve chromosomal mutations resulting from an aberrant number of chromosomes (such as Down syndrome or Klinefelter syndrome). Using at least four (4) websites as resources, research and type a 600 word summary (Times New Roman, 12, double spaced, 1 inch margins) describing the disorder. If you click on the tab entitled “Resources” at the page top you can find links to various reliable resources.
You should make sure to include the following in your summary:
Name of disorder/cancer and gene that causes it (1pt)
On what chromosome the gene is located (1pt)
Disorder/Cancer symptoms (10pts)
Are there treatments available? If so, what is the treatment? (6pts)
Incidence of the disorder in the human population (how common is it?) (1pt)
Does it affect certain ethnic groups more than others? If yes, list which group(s) it affects. (1pt)
At the end of your summary, list your websites as “References” using the following format:
Name of website. [Retrieved] Date, [from] URL of Website
Example:
Drums from Africa. Retrieved May 17, 2005, from http://www.abcd.com/africa/b2k
Explanation / Answer
References
Tay-Sachs Disease - National Library of Medicine - PubMed Health. (2017). PubMed Health. Retrieved 18 March 2017, from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/
References :
Tay-Sachs Disease Information Page | National Institute of Neurological Disorders and Stroke. (2017). Ninds.nih.gov. Retrieved 18 March 2017, from https://www.ninds.nih.gov/Disorders/All-Disorders/Tay-Sachs-Disease-Information-Page
Name of disorder/cancer and gene that causes it (1pt)
Tay–Sachs disorder--------- genetic mutation in the HEXA gene on chromosome 15
On what chromosome the gene is located (1pt)
genetic mutation in the HEXA gene on chromosome 15
Disorder/Cancer symptoms (10pts)
See below for explanation
Are there treatments available? If so, what is the treatment? (6pts)
Incidence of the disorder in the human population (how common is it?) (1pt)
See below for explanation
Does it affect certain ethnic groups more than others? If yes, list which group(s) it affects. (1pt)
Yes ,jews …See below for explanation
Tay–Sachs disorder (GM2 gangliosidosis or hexosaminidase defiicnecy.
It is an uncommon autosomal recessive hereditary issue. In its most regular variation (known as puerile Tay–Sachs ailment), it causes a dynamic weakening of nerve cells and of mental and physical capacities that starts around seven months of age and for the most part results in death by the age of four. The infection happens when hurtful amounts of cell layer parts known as gangliosides gather in the mind's nerve cells, in the end prompting to the unexpected passing of the cells. A ganglioside is a type of sphingolipid, which makes Tay–Sachs ailment an individual from the sphingolipidoses. There is no known cure or treatment.
Look into in the late twentieth century showed that Tay–Sachs ailment is brought about by a hereditary transformation in the HEXA quality on chromosome 15. A substantial number of HEXA transformations have been found, and new ones are as yet being accounted for. These changes achieve noteworthy frequencies in particular populaces. French Canadians of southeastern Quebec have a bearer recurrence like that found in Ashkenazi Jews, however convey an alternate change. Cajuns of southern Louisiana convey a similar transformation that is seen most generally in Ashkenazi Jews. HEXA transformations are uncommon and are most observed in hereditarily detached populaces. Tay–Sachs can happen from the legacy of either two comparative, or two disconnected, causative transformations in the HEXA quality.
As an autosomal passive issue, two Tay–Sachs alleles are required for a person to show side effects of the illness. Transporters of a solitary Tay–Sachs allele don't show indications of the malady however give off an impression of being secured to some degree against tuberculosis. This records for the tirelessness of the allele in specific populaces in that it presents a particular favorable position—at the end of the day, being a heterozygote is profitable
It is normally initially seen in newborn children around 6 months old showing an unusually solid reaction to sudden commotions or different jolt, known as the "startle reaction," since they are startled. There may likewise be languor or muscle firmness (hypertonia). The infection is ordered into a few structures, which are separated in light of the onset period of neurological symptoms.
Juvenile Tay–Sachs malady. Newborn children with Tay–Sachs malady seem to grow regularly for the initial six months after birth. At that point, as neurons get to be stretched with gangliosides, a tireless crumbling of mental and physical capacities starts. The tyke may get to be distinctly visually impaired, hard of hearing, not able to swallow, decayed, and immobile. Demise as a rule happens before the age of four.
Adolescent Tay–Sachs sickness. Adolescent Tay–Sachs sickness is rarer than different types of Tay–Sachs, and for the most part is at first found in kids in the vicinity of two and ten years of age. Individuals with Tay–Sachs infection create subjective and engine expertise disintegration, dysarthria, dysphagia, ataxia, and spasticity. Death more often than not happens between the age of five to fifteen years.
Grown-up/Late-Onset Tay–Sachs malady. An uncommon type of this malady, known as Adult-Onset or Late-Onset Tay–Sachs illness, typically has its first side effects amid the 30s or 40s. As opposed to alternate structures, late-onset Tay–Sachs sickness is typically not deadly as the impacts can quit advancing. It is as often as possible misdiagnosed. It is portrayed by shakiness of step and dynamic neurological decay. Side effects generally onset Tay–Sachs – which commonly start to be found in puberty or early adulthood – incorporate discourse and gulping troubles, precariousness of step, spasticity, intellectual decay, and psychiatric disease, especially a schizophrenia-like psychosis.[6] People with late-onset Tay–Sachs may turn out to be full-time wheelchair clients in adulthood.
Until the 1980s, when the malady's sub-atomic hereditary qualities got to be distinctly known, the adolescent and grown-up types of the illness were not generally perceived as variations of Tay–Sachs sickness. Post-puerile Tay–Sachs was frequently misdiagnosed as another neurological issue, for example, Friedreich's ataxia.
Tay–Sachs sickness is an autosomal latent hereditary issue, implying that when both guardians are bearers, there is a 25% danger of bringing forth an influenced tyke with every pregnancy. The influenced youngster would have gotten a transformed duplicate of the quality from each parent.
Tay–Sachs comes about because of changes in the HEXA quality on chromosome 15, which encodes the alpha-subunit of beta-N-acetylhexosaminidase An, a lysosomal compound. By 2000, more than 100 distinct transformations had been distinguished in the human HEXA gene. These changes have included single base additions and erasures, graft stage changes, missense transformations, and other more mind boggling designs. Each of these transformations modifies the quality's protein item (i.e., the chemical), once in a while extremely repressing its function] as of late, populace studies and family investigation have demonstrated how such changes emerge and spread inside little organizer populaces. Beginning examination concentrated on a few such organizer populaces:
Ashkenazi Jews. A four base match inclusion in exon 11 (1278insTATC) brings about a modified perusing outline for the HEXA quality. This change is the most common transformation in the Ashkenazi Jewish populace, and prompts to the childish type of Tay–Sachs disease
Cajun. The same 1278insTATC change found among Ashkenazi Jews happens in the Cajun populace of southern Louisiana. Scientists have followed the heritage of transporters from Louisiana families back to a solitary organizer couple – not known to be Jewish – who lived in France in the eighteenth century.[11]
French Canadians. Two transformations, inconsequential to the Ashkenazi/Cajun change, are missing in France yet basic among French Canadians living in eastern Quebec and Acadians from the Province of New Brunswick. Family investigation proposes the changes were extraordinary before the late seventeenth century
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.