Flashcards
Genetics Note cards 1
Flashcards do conjunto (15)
- 1MARFAN SYNDROMECAUSE - mutation in FBN1 gene
SYMP - tall,thin,scoliosis,dialated aorta
CODE 4- a protein needed to properly make microfibrils - connect of tissue - 2HUNTINGTON'S DISEASECAUSE- Mutated HTT gene
SYMP - degeneration of nervous system, uncontrollable body movement , slurred speech , depression
CODE 4- abnormal huntingtin protein, producces more than 40 CAG repeats in HTT gene - 3NAIL - PATELLA SYNDROMECAUSE- mutation in LMX1B gene
SYMP- absence of nails, deformed elbows & knee joints
CODE 4 - proteins for development of limbs, elbows & kidney during embryo-genesis - 4PROGERIACAUSE - mutation in LMNA gene
SYMP- accelerated aging, loss of subcutaneous fat & muscle, arthritis, hair loss
CODE 4- proteins that are important in maintaining nuclear stability organize nuclear chromatin - 5KALLMAN SYNDROMECAUSE- mutation in KAL1 & ANOS gene
SYMP- absent or incomplete puberty, infertility, ansomia (lack of smell)
CODE 4- production of gonadotropin releasing hormone - 6EHLERS - DANLOS SYNDROMECAUSE- mutated COL5A1 & 2 gene
SYMP- muscle weakness, skin is hyperEXTENSible
CODE 4- proper collagen & connective tissue synthesis & structure - 7TAY - SACHS DISEASE (enzyme)CAUSE- mutation in the HEX-A gene
SYMP- accumulation of gangliosis muscle atrophy
CODE 4- an enzyme that breaks down fatty substance called ganglioside - 8ACHONDROPLASIACAUSE- mutation in FGFR3 gene
SYMP- dwarfism in long bones
CODE 4 - proper ossification of cartilage in long bones - 9CROUZON SYNDROMECAUSE- mutation in FGFR2 gene
SYMP- defect development of mid-face region, "beaked nose"
CODE 4- proper ossification of cartilage in bones & skull - 10XERODERMA PIGMENTOSUMCAUSE- mutated XP gene
SYMP- sensitive to UV light , prone to skin cancer
CODE 4 - proper repair of DNA damage caused by UV radiation - 11BLOOM SYNDROMECAUSE- mutation in BLM gene
SYMP- growth delay, "butterfly" skin
CODE 4- proper genomic stability & proper DNA helicase activity - 12ATAXIA TELANGIECTASIACAUSE- mutated ATM gene
SYMP- SPIDER like veins in eyes and skin, abnormal gait
NORMALLY REQUIRED FOR GENOMIC STABILITY & CONTROL OF CELL CYCLE - 13THALASSEMIACAUSE- globin gene (HBA1,2 & HBB)
SYMP- anemia, jaundice, bony abnormalities
CODE 4- the proper formation of sub-units of hemoglobin protein - 14PHENYLKETOURIA (enzyme)CAUSE- mutated PAH gene
SYMP- mental retardation, mousy odor in skin & urine, seziures
CODE 4- an enzyme that breaks down the amino acid PHE into TYR - 15GALACTOSEMIA (enzyme)CAUSE- mutation in the GALT gene
SYMP- liver disfunction, lethargy
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- FlashCards sobre Genetics Note cards 1 , criado por Alyssa Gibbs em 09-01-2018.
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- Alyssa Gibbs
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