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Flashcards in Genetics Deck (47)
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1

______ is the presence of multiple, genetically different cell lines within the body

Mosaicism

2

_______ is the probability that a person with a given genotype will exhibit the corresponding phenotype

Penetrance

3

______ is the occurrence of multiple, seemingly unrelated phenotypic manifestations in different organ systems, as a result of a SINGLE genetic defect

Pleiotropy

4

Fragile X syn, Huntington disease, friedreich ataxia, and spinocerebellar ataxia are all examples of disorders caused by genes that contain repeated _______ sequences

TRINUCLEOTIDE

5

_______ syndrome is an AUTOSOMAL DOMINANT connective tissue disorder that classically affects the cardiovascular and musculoskeletal systems as well as the eyes.

Marfan syndrome

6

Marfan syndrome is a good example of ________ because there is a difference in phenotype although members of the same family have the same genetic mutation.

VARIABLE EXPRESSIVITY

7

________ is used to describe an inheritied disease state in which sucessive generations experience earlier onset or increased severity of the disease (e.g. Huntington's Disease)

GENETIC ANTICIPATION

8

_______ describes a phenominon in which a disease phenotype can be caused by one of SEVERAL genotypes (e.g. osteogenesis imperfecta can come from mutations in COL1A1 or COL1A2)

GENETIC HETEROGENETIY

9

_______ is a condition in which multiple sets of genetic information are found in the germ cells producing ova or sperm. It can result in mutations being passed to offspring even if the pt's somatic cells are unaffected

GERMLINE mosaicism

10

_________ describes instances when different mutations at the same genetic locus cause similar phenotypes

Allelic Heterogneity

11

WHEELHOUSE: Name the AUTOSOMAL DOMINANT disorder-head circumference in 90th percentile, mid-face hypoplasia, humeral and femoral shortening. Hands have shortened digits and space between 3rd and 4th digits.

Achondroplasia

12

Achondroplasia is a point mutation on WHAT GENE?

fibroblast growth factor receptor 3 (FGFR3)

13

WOW ___% of achondroplaisa mutations occur in the fetus of UNAFFECTED PARENTS...its USUALLY the meternal OR paternal allele???

90%...paternal

14

Wow, I was way off..________ is a rare X LINKED genetic condition that results in a defect in the signal transduction molecule known as Bruton's tyrosine kinase (BTK)

Bruton AGAMMAGLOBULINEMIA

15

In Bruton Agammaglobulinemia, what cells cannot mature and leave the bone marrow?

B cells (Bruton = B Cells)

16

BOOM. YOU READY FOR SOME SHIT: 3 common diseases associated with chormosome 7. GO

1.Cystic Fibrosis 2.Ehlers-Danlos Syndrome 3.Osteogenesis Imperfecta

17

2 common diseases associated with chromosome 16. GO.

1.polycystic kidney disease 2.tuberous sclerosis

18

1 common disease associated with chromosome 20. GO.

type I diabetes

19

1 common disease associated with chromosome 22. GO

DiGeorge syndrome

20

This SHOULD be wheelhouse...get it there-Early onset osteoporosis, scoliosis, blue sclera of the eye, and hearing loss...WHAT GENE AND PROTEIN PRODUCT ARE INVOLVED??

OSTEOGENESIS IMPERFECTA...COL1A1 and COL1A2 for type I collagen (I LOVE how they name genes!)

21

Activation of the ____ proto-oncogene which occurs in MEN2 syndrome is an example of an ACTIVATING mutation that predisposes to malignancy. ONLY 1 copy of a proto-oncogene is sufficient to promote tumor development!!!

RET

22

What cancer is associated with fusion of 2 genes to form a novel protein? In this case, its between chromosomes 9 and 22 (AKA PHILADELPHIA chromosome)

CML (chronic myeloid leukemia)

23

The mechanism behind MOST heritable cancer syndromes-including Li-Fraumeni Syndrome- is a SINGE _____ cell aquiring a "second hit" and developing a second inactivating mutation in the remaining copy.

SOMATIC

24

In an X-linked Recessive disorder, what are the chances a duaghter will be a CARRIER? What are the chances a son is AFFECTED?

BOTH are a 1/2 chance

25

What type of genetic disorder (AD, AR, X-linked, etc.) is DUCHENNE Muscular Dystrophy?

X-linked Recessive

26

What is the name for the sign when a boy with DUCHENNE Muscular Dystrophy, aged 3-5 y/o, begins to use his hands as support when they rise from the floor?

GOWER's sign

27

What deficiency is an X-Linked deficiency most common among African, Asian, or Mediterranian decent and caused hemolysis and acute-onset anemia?

G6PD (Glucose-6-Phosphate Dehydrogenase) deficiency

28

Alpha-thalassemia is characterized by impaired ________

HEMOGLOBIN SYNTHESIS

29

Which disease is due to a deficiency in BETA-glucoCERE-BRO-sid-ase?

Gaucher disease

30

What is the electron microscopy appearance of GAUCHER disease? What type of inheritance is it?

"wrinkled tissue paper"...Autosomal Recessive