Assignment: Genotype/Phenotype Correlations
This article talks about Genotype/Phenotype correlations in 103 children from different families about 87 with the genetic disease Hereditary Spherocytosis. The aim of the paper was to inform the percent and the number of children with HS and how it represents one of the largest and most comprehensive genetic analyses of a cohort of HS patients. Their findings will add to the growing understanding of the disease and is very important to provide the information to other cases and possible future cases. In that case they found that mutations in ANK1 were most common out of the 50 children / 43 families fallowed by other type of mutations. Most of transformations in the patients were hogwash, frameshift, or join site changes. Apart from this, there is nothing else from this paper that I think would be necessary for my review paper since it gave lots of information that would conclude that Hereditary Spherocytosis is affecting the population in most cases which are children.
Soo, H., Kyong, Shin4, H. Y., Kang4, H. J., Kook7, H., Seon Young Kim8, S.-J. K., … Kim5, J. H. (2019, May 23). Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Retrieved from https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1070-0
Wang, C., Cui, Y., Li, Y., Liu, X., & Han, J. (2015, May). A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428190/
· This paper summarizes epidemiological information of hereditary spherocytosis in china is very uncommon, as well as the number of cases of HS reported in China Biology Medicine disc from 1978 to 2013. Altogether, 2,043 cases were accounted to the previous 36 years. The article describes the distribution from time and space. All outcomes recommend a more grounded system of conclusion and treatment including all degrees of medical clinics ought to be made to improve medicinal services for genetic spherocytosis and even other uncommon illnesses later on, then we can get progressively helpful data for vagrant medication assignment purposes and settle on general wellbeing choices in regards to such sicknesses using the weight of ailment models.
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