High Yield COMLEX Level 1 Genetic Diseases Questions And Answers Latest Update!!
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Course
COMLEX
Institution
COMLEX
The COMLEX-USA (Comprehensive Osteopathic Medical Licensing Examination of the United States) is a series of standardized medical board exams designed for osteopathic medical students and physicians. Administered by the National Board of Osteopathic Medical Examiners (NBOME), it evaluates candidate...
Caused by a defect in the HPRT1 gene encoding hypoxanthine-guanine
phopshoribosyltransferase1, an enzyme responsible for recycling purines
as well as making DNA and RNA.
Prader-Willi Syndrome (PWS) - Answers epigenetics
hypotonin, short stature, hypogonadism, intellectual disability, chronic
hunger
1/15,000
Caused by the deletion or silencing of up to 7 genes on the paternal
chromosome 15, combined imprinting defects on the maternal
chromosome. Some of these genes which are not expressed include
SNORD 116 and SNRPN which regulate alternative mRNA splicing. Their
deletion leads to an increase in production of ghrelin mRNA, causing
chronic hunger.
Bloom Syndrome - Answers AR inheritance of Ch15 causing DNA
fragility
Feats:
- short stature
- telangiectatic erythema of the face (improves with age)
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