Genética Flashcards
Inheritance pattern for von Hippel-Lindau disease
ACP december 2019
Autosomal dominant
Men with this gene mutation are susceptable to breast, prostate and pancreatic cancer
ACP december 2019
BRCA1
Also known as the Sarcoma, Breast, Leukemia, and Adrenal Gland (SBLA) cancer syndrome
ACP december 2019
Li Fraumeni syndrome
Full name for the gene abbreviated as PMP22 that is associated with Charcot-Marie-Tooth disease
ACP december 2019
Peripheral myelin protein 22 gene
The defining non-malignant tumor associated with phosphatase and tensin homolog (PTEN) gene mutation
Hamartomatous tumors
Most common BRCA gene mutation associated with breast cancer in men
ACP February 2024
BRCA-2 (do not accept BRCA alone)
Phenomenon in which successive generations display earlier or more severe manifestations of a genetic condition
ACP February 2024
Anticipation
Cutaneous hypersensitivity reaction strongly associated with carbamazepine therapy in patients with the HLA-B1502 genotype
ACP February 2024
Stevens-Johnson syndrome/toxic epidermal necrolysis (accept SJS/TEN or either entity alone)
Epigenetic phenomenon that causes autosomal genes to be expressed in a parent-of-origin-specific manner
ACP February 2024
Imprinting
Term for the study of antiparallel RNA strands produced by the genome in a specific cell
ACP February 2024
Transcriptomics
Most prevalent monogenic inherited medical disorder
ACP January 2023
Autosomal dominant polycystic kidney disease (do not accept polycystic kidney disease alone)
Offspring of consanguineous unions are at increased risk of this pattern of inherited genetic disorder
ACP January 2023
Autosomal recessive (do not accept recessive alone)
The ability of a mutation in a single gene to produce more than one phenotypic effect
ACP January 2023
Pleiotropy
Hematologic malignancy associated with translocation between chromosomes 15 and 17
ACP January 2023
Acute promyelocytic leukemia
Gene editing technique utilizing the bacterial defense system against infecting viruses
ACP January 2023
CRISPR (accept CRISPR-Cas9, Clustered Regularly Interspaced Short Palindromic Repeats)
The role of genetic variation on response to a drug
ACP July 2022
Pharmacogenetics (accept pharmacogenomics)
Name of genetic testing to identify asymptomatic individuals heterozygous for a recessive disorder
ACP July 2022
Carrier testing
Likelihood of developing disease when a disease-causing genetic mutation is present
ACP July 2022
Penetrance
Term for alteration of chromosome gene expression without changing the nucleotide base sequence
ACP July 2022
Epigenetic change
Segment of a chromosome that shortens with aging
ACP July 2022
Telomere
