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Module 2 introduces us to both autosomal and x-linked inheritance. For this second discussion find a scientific or news article that provides an example of an autosomal or x-linked inheritance disease of your choice. Remember to tell us why you chose this disease and to comment on two other posts by your peers. I am leaving you with an article about hemophilia as an example. Hemophilia is also known as the “royal disease” passed from Queen Victoria, who became Queen of England in 1837, to many European ruling families. Unfortunately, it affects mostly men and many of the princes in these families died very young. Have you ever wonder how Rasputin gained so much influence over the Romanovs? It seems that hemophilia has a bloody history after all.
https://www.sciencedaily.com/releases/2019/09/1909…23
Clicks: Daniel Phillips, Joshua Parish, Claudia Sheridan, Megan Phithak, Jake Sheaffer, Erika Alarcon, Elizabeth Miller, Andrea Kovac, Isabel Gabinskiy, Marilyn Roberts, Inez Billy, Tegan Homol, Nicole Yerks, Farrah Lin, Michael Sheldon, Emma Chakef, Avery Monchamp, Antonia Chacon-Taylor, Anahi Delgado, Brianna Parker, Kera Liquete, Ariadna Alvarez Fernandez, Darwin Cruz
SCIENCEDAILY – Sep 09, 2019
Hemophilia three times more prevalent than thoughtResearchers performed a meta-anaa
and can you please reply to these two students ?
Kaliyah Sholesi-Davis
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Tay-Sachs is a rare autosomal recessive disease that typically affects young children, meaning both parents must be carriers of this gene mutation in order for a child to inherit it. The disease is caused by a genetic mutation in the enzyme hexosaminidase A and this allows lipid buildup in the cells causing the damage and/or death of them. The damage of these cells start to become noticeable after babies reach 6 months of age, then they unfortunately begin to experience loss of hearing, seizures, declining development, blindness, etc. Currently this heartbreaking genetic disease has no treatments other than ones given to try to control the individual’s seizures or just make life more comfortable overall. Tay-Sachs usually becomes fatal in diagnosed individuals at 3-5 years of age. There is also an even rarer form of Tay-Sachs where it is late onset and occurs in individuals between their 20s and 30s. I chose this disease because it really grabbed my attention. How fast it can deteriorate a child and how there are no cures or viable treatments tugs at my heart, and also makes me curious as to how a different variation of the disease can appear in an individual so much later in life.
https://www.ninds.nih.gov/health-information/disor…1
Clicks: Isabel Gabinskiy
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE – Nov 28, 2023
Tay-Sachs DiseaseTay-Sachs disease is a rare, inherited metabolic disea
Jose Rodelas
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Hello class, I decided to post about this article because I wanted to use a recent/relevant clinical article for this post and to understand inheritance patterns. X‐linked inheritance, could either be dominant or recessive mutation in a gene. The article briefly noted the discovery of retinal dystrophy, to not be an “Autosomal Dominant”.(one of the five inheritance patterns) By looking at the genotypic and phenotypic spectrum gene of IRD. Retinal dystrophy causes a degenerative disease in the retina of the eye on either female or male. The article describe that 31% of women out of the 43 families that were examined, are affected with RP2 or RPGR mutations in the IRD database. Were classified cohort studies led me to conclude that, X-linked inheritance has a peculiar characteristic among the other 5 inheritance patterns; fathers cannot pass X-linked traits to their sons but fathers only pass X chromosomes to their daughters and Y chromosomes to their sons. In contrast, mothers pass X-linked genes to both sons and daughters (Alliance, 2009). Leading to be more prominent variant into women in these 43 families rather than 18.5% females initially being classified as “Autosomal Dominant” to Retinal dystrophy. As such, scientists discovered the gene pattern that lead to more comprehension of the new variant to be studied in clinical care with gene therapy.
Link to article
https://search.lib.asu.edu/discovery/fulldisplay?d…
Resource
https://www.ncbi.nlm.nih.gov/books/NBK115561/
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INHERITANCE PATTERNS – Understanding Genetics – NCBI BookshelfIt is important to understand the basic laws of inheri
