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Genetics Term 1 > Intro Medical Genetics > Flashcards

Intro Medical Genetics Flashcards

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1
Q

What kind of mutation is responsible for Achondroplasia?

A
  • Heterozygous mutation in FGFR3
  • Missense: Gly to Arg
  • Gain of Function
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2
Q

What does Rhizomelic mean?

A

The proximal portions of limbs are shorter than distal portions

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3
Q

What are the symptoms of achondroplasia?

A
  • Skeletal dyspsasia
  • Short Stature
  • Rhizomelic
  • Normal intellect
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4
Q

What are the medical complications of achondroplasia?

A
  • cord compression
  • sleep apnea
  • Obesity
  • Stenosis at L1-L4
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5
Q

What does allelic mean?

A

Different mutations in the same allele

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6
Q

What is Achondroplasia allelic to?

A
  • Thanatophoric Dysplasia

- Hypochondroplasia

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7
Q

What is the normal function of FGFR3?

A
  • Fibroblast Growth Factor Receptor 3
  • serves as a negative regulator of bone growth during ossification
  • inhibits proliferation of chondrocytes within growth plate
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8
Q

What kind of mutation is responsible for Cystic Fibrosis?

A
  • Autosomal Recessive

- 1000’s of mutations possible in CFTR gene

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9
Q

What kind of mutation is responsible for Sickle Cell Anemia?

A
  • Autosomal Recessive
  • Point Mutation in beta-globin gene
  • Glu6Val
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10
Q

Sex Limited Expression

A

-Genes are present in both sexes, but only expressed in one sex or the other
EX: Ovarian Cancer

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11
Q

New Mutation Dominant

A

-A dominant mutation that arises from unaffected parents

EX: Achondroplasia

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12
Q

Non Penetrance

A

-When a trait that is present in the genotype is not expressed in the phenotype
EX: Ectrodactyly

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13
Q

Gonadal Mosaicism

A

-When the precursor germline cells to ova and spermatozoa are a mixture of two or more genetically different cell lines
EX: Osteogenesis Imperfecta

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14
Q

Advanced Paternal Age

A

-Hundreds of rounds of replication in the spermatogonia leads to more mutations
EX: Achondroplasia

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15
Q

Variable Expressivity

A

-The degree to which a trait is manifested

EX: Neurofibromatosis

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16
Q

Copy number variation

A

-Alterations in genome that result in copies or deletions of genetic material
EX: Potocki-Lupski Syndrome

17
Q

What is Ectrodactyly?

A
  • An autosomal Dominant Non-Penetrance disorder

- Split-Hand/Split-foot

18
Q

What is Phenylketonuria (PKU)?

A

-Autosomal recessive disorder
-Abnomral gene for phenylalanine hydroxylase
Sx’s:
-Microcephaly
-Intellectual disability
-seizures

19
Q

What does phenylalanine hydroxylase do?

A

converts phenylalanine to Tyrosine

20
Q

How is Phenylketonuria (PKU) treated?

A
  • Restricted diet

- No phe in diet

21
Q

What is Tay-Sachs Disease

A
  • Autosomal Recessive disorder
  • Deurodegenerative disease
  • Born completely normal
  • Lysosome storage disorder
  • Death by 2-4 years
22
Q

What is consanguinity?

A

Related by decent from a common ancestor

23
Q

What is Lyonization?

A

The term for X-Inactivation in females

24
Q

What is the pseudoautosomal region?

A

Genes in the region of X or y that remain active in both males and females

25
Q

What is incontentia pigmenti?

A
  • X-Linked Dominant Disorder
  • Progressive skin rash
  • Microcephaly, retardation, seizures
  • Conical Teeth
  • Bald patches
26
Q

What kind of mutation causes Duchenne Muscular dystrophy?

A

-X-Linked Recessive mutation in Dystrophin gene

27
Q

What is the gower’s maneuver?

A

-Trouble standing up in Muscular Dystrophy pts

28
Q

What is fragile X-syndrome?

A
  • Most common inherited form of intellectual disability

- due to a triplet repeat expansion

29
Q

What is matrilineal inheritance?

A

Only gets passed on by mother (Mitochondria), can be passed to ALL progeny

30
Q

Name 4 hereditary cancer syndromes:

A
  1. Hereditary breast and ovarian cancer syndrome
  2. Cowden syndrome
  3. Lynch Syndrome
  4. Von Hippel Lindau
31
Q

What cancers are caused by Cowden Syndrome?

A
  • Breast
  • Endometrium
  • Thyroid
32
Q

What cancers are associated with Lynch syndrome?

A
  • Colon
  • ovarian
  • Endometrium
33
Q

What cancers are associated with Von Hippel Lindau?

A
  • hemangioblastomas

- Renal Cell

34
Q

What is Hereditary hemochromatosis?

A
  • Iron overload disorder
  • Sx’s abd pain, weakness, lethargy, weight loss
  • Leads to heart failure
35
Q

What is the treatment for hemochromatosis?

A

-Blood letting

36
Q

What is Familial Adenomatous Polyposis?

A
  • Characterized by presence of 100s to 1000s of polyps in the colon
  • 100% risk of colon cancer by age 40

Genetics Term 1 (7 decks)

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