Choose a mendelian inherited disease. Summarize a recent study that has been pub
ID: 3521549 • Letter: C
Question
Choose a mendelian inherited disease. Summarize a recent study that has been published about this disorder. Be sure to cite the source
The summary should include answers to the following questions:
What is the purpose of the study?
What questions were asked?
How did the study address these questions?
What assumptions did the author make?
What were the major findings?
What surprised you or struck you as interesting?
What confused you?
What questions are still unanswered?
The summary should also include the background and methods described in your own words, as well as, how the disease is inherited and an example of a pedigree for the particular disease.
Explanation / Answer
I have chosen Glucose 6 phosphate dehydrogenase deficiency which is inherited as a X linked recessive trait. The study that I would like to summarise is given below,
Zuniga MA, Mejia RE, Sanchez AL, Ochoa HL, Fontecha GA. Glucose 6 phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples. Malaria Journal; 2015: 14: 308.
The purpose of this study was to investigate the frequency of two common G6PDd variants among malaria patients in Honduras. The questions asked were to know about the frequencies of G6PD variants. The study addressed these questions by doing descriptive analysis of archival blood samples. The author's found that the overall frequency of G6PD deficiency 16.08%. The high frequency of G6PDd alleles were obtained from malaria endemic regions in Northern Honduras. This study identified higher than expected frequency of G6PDd alleles.
Related Questions
drjack9650@gmail.com
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.