Exam (elaborations)
MB (ASCP) () TRANSLOCATIONS, DISEASES, PHARMA, POLYMERASES, & MORE
- Course
- Institution
MB (ASCP) () TRANSLOCATIONS, DISEASES, PHARMA, POLYMERASES, & MORE
[Show more]
Seller
Follow
Content preview
MB (ASCP) (2024-2025) TRANSLOCATIONS, DISEASES,PHARMA, POLYMERASES, & MORE
BRAF
Oncogene or Tumor Suppressor? - <<<Answers>>>Oncogene
PIK3CA
Oncogene or Tumor Suppressor? - <<<Answers>>>Oncogene
Prader-Willi and Angelman syndromes - <<<Answers>>>-
PRADER: defect on PATERNAL
- ANGELMAN: defect on MATERNAL
- chromosome 15 (15q11.2-13)
- UBE3A area deletion (70%)
- point mut in UBE3A (30%)
Non-syndromic hearing loss - <<<Answers>>>- GJB2 is
Cx26 (smaller point mut)
- GJB6 is Cx30 (usually large del)
- connexin 26 + 30 proteins = allow transfer of ions
- autosomal recessive
Pendred Syndrome - <<<Answers>>>- SLC25A4 at 7q31
- syndromic deafness, early loss of hearing at birth/by age 3.
enlarged thyroid
-autosomal recessive
,MB (ASCP) (2024-2025) TRANSLOCATIONS, DISEASES,
PHARMA, POLYMERASES, & MORE
Kallman Syndrome Type 2 and Pfeiffer Syndrome Type 1 -
<<<Answers>>>- FGFR1 8p12 (missense substitution)
- Kallman = hypogonadism, lack of development
- Pfeiffer: premature fusion of skull bones, abnormal growth
- both are autosomal dominant
- testing: seq analysis, deletion analysis, familial mut analysis
Phenylketonuria - <<<Answers>>>-PAH gene mutation
(phenylalanine hydroxylase) >900 variants
-inability to properly break down phenylalanine
-involved in melanin production (lighter skin, hair, eyes)
-autosomal recessive
-targeted mutation analysis, seq of PAH gene
Glycogen storage disease Type I - <<<Answers>>>-G6PC
(GSDIa) most common snd SLC37A4 (GSDIb)
- buildup of glycogen in certain organs and tissues
-autosomal recessive
-target mutation analysis, seq analysis of G6PC
Gaucher's Disease - <<<Answers>>>-GBA gene, >400
mutations
-bone disease, anemia
-autosomal recessive
, MB (ASCP) (2024-2025) TRANSLOCATIONS, DISEASES,
PHARMA, POLYMERASES, & MORE
-targeted analysis, seq analysis
Mucolipidosis Type IV - <<<Answers>>>-MCOLN1 gene
-delayed dev. of mental/motor skills within year 1
- autosomal recessive
-ophalmic exam
Niemann-Pick Disease Type A - <<<Answers>>>-SMPD1
codes for protein acid sphingomyelinase (ASM)
- lipid metabolism disease
-autosomal recessive
-seq analysis, gene-targeted deletion/dup analysis
Hereditary Hemochromatosis Type 1 - <<<Answers>>>-HFE
6p21.3
-iron metabolism defect (increased absorption of iron)
-autosomal recessive
-molecular testing for common variants in HFE gene
Huntington's Disease - <<<Answers>>>-CAG repeat on HTT
(huntingtin gene)
-short arm of C4 in exon 1
-autosomal dominant
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller jackbundi9071. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $10.49. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
81113 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now