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MB (ASCP) () TRANSLOCATIONS, DISEASES, PHARMA, POLYMERASES, & MORE
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MB (ASCP) () TRANSLOCATIONS, DISEASES, PHARMA, POLYMERASES, & MORE
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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
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