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Written Comps Year 1 > Genetics Main > Flashcards

Genetics Main Flashcards

1
Q

Genes for connexin deafeness

A

GJB

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2
Q

Gene GJB2 =

A

Connexin 26; protein

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3
Q

Where is connexin found?

A

Connexins are found in non sensory epithelial & supporting cells

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4
Q

what is Connexin?

A
  • Inherited non syndromic HL (mild to serve) and deafness.
  • Mostly recessive but can be dominate, very rare X-linked
    Connexins are found in non sensory epithelial & supporting cells
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5
Q

True or false

30% or more of autosomal recessive nonsyndromic hearing loss is caused by Connexin 26 (GJB2 gene) mutations

A

FALSE
50% or more of autosomal recessive nonsyndromic SNHL hearing loss is caused by Connexin 26 (GJB2 gene) mutations

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6
Q

Cx26 is thee causative gene in what locus

A

DFNB1- MOST COMMON (AR)
DFNA3- AD

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7
Q

Does connexin follow, independant assortment , Mandelain law?

A

no, GJB2 &GJB6 influence one another

Genes GJB2 & GJB6 Code for proteins connexin 26 and connexin 30 and are closely linked on chromosome 13. Closeness = mutation on GJB6 can influence the expression of GJB2.
Meaning You can have hearing loss w/ 2 gene mutations on GJB2 or 2 gene mutations on GJB6 or 1 on 6 & 1 on 2

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8
Q

Nonsyndromic loci
DFN

A

Nonsyndromic loci
DFN= Deafness neurosensory
A= Autosomal recessive
B= Autosomal Domiante
X= X-linked recessive
Y= Y-linked
M=Modifer
AUNA= Auditory Nuropathy
OTSC= Otosclerosis

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9
Q

Loci identification
A=

A

A= Autosomal Dominate

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10
Q

Loci identification
B=

A

B= Autosomal Recessive

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11
Q

Loci identification
X=

A

X-linked recessive

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12
Q

Loci identification
Y=

A

Y-linked

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13
Q

Loci identification
M=

A

M=Modifer

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14
Q

Loci identification
AUNA=

A

AUNA= Auditory Nuropathy

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15
Q

Loci identification
OTSC=

A

OTSC= Otosclerosis

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16
Q

what is
DFNA=

A

DFNA= Autosomal Domiante

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17
Q

DFNB=

A

DFNB= Autosomal Recessive

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18
Q

DFNX=

A

DFNX= X-Linked recessive

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19
Q

DFNY=

A

DFNY= Y-linked

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20
Q

DFNM=

A

DFNM=Modifer

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21
Q

AUNA=

A

AUNA= Auditory Nuropathy

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22
Q

OTSC=

A

OTSC= Otosclerosis

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23
Q

Connexin 26
- Gene
- Cauative Gene
- Inheritance
- Common Mutation
- Found in
- audio

A
  • GJB2 Gene mutation
  • DFNB1 or DNFA3
  • Recessive (MC) or Dominate
  • Del35G- Common in Caucasians
  • found throughout body
    really know= Inner ear, Supporting cells and non-sensory epithelial
  • Congenital, Bilateral, Mild to profound. (rare unilateral)
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24
Q

Connexin 30
- Gene
- causative gene
- Inheritance

A
  • GJB6
  • DFNA3
  • Dominate
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25
Q

Connexin 32
- Gene
- Inheritance
- Example

A
  • DFNX
  • X-Linked
  • Charcot-Marie-tooth disease
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26
Q

True or False
A multitude of syndromes that include abnormalities of ear and facial defects come from the first and thrid brachial arches?

A

FALSE
A multitude of syndromes that include abnormalities of ear and facial defects come from the first and second brachial arches

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27
Q

How many branchial arches
- initally
- later

A
  • 1-6 branchial arches
  • 4 branchial arches
    • 5 disappears
    • 4 & 6 fuse together
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28
Q

What develops from 1st & 2nd Branchial arches?

A

Outer ear, Middle ear & face

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29
Q

what forms the External & Middle ear? (short)

A

1st & 2nd arche, Their pouches, cleft & neural crest cells form the external and middle ear

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30
Q

What does the mesoderm from the 1st & 2nd B Arches form?

A

Facial and auditory muscles

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31
Q

Every each has its own what?

A

Nerve, Cartilage & Artery

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32
Q

2nd,3rd and 4th cleft form the cervical sinus that will later disappear. If the cervical sinus does not disappear this forms what?

A

forms the lateral or bronchial cysts or fistula.

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33
Q

External Canal is formed from

A

External Canal formed from 1st & 2nd Cleft

begins @ wk 6 1st left tunnels & develops until wk 26 w/meatal plug opening

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34
Q

External Canal formation steps

A

External Canal formed from 1st & 2nd Cleft

begins @ wk 6 1st left tunnels & develops until wk 26 w/meatal plug opening

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35
Q

The external Ear matures until what age?

A

7 years

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36
Q

what forms the TM layers (3)

A

Outer= ectoderm ; meatal plug
middle layer= mesoderm, from neural crest cells
inner layer = ectoderm

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37
Q

Tympanic membrane formation
& three layers

A

at border of meatal plug
outter- endodermal meatal plug
middle- mesoderm; neural crest cells
outer- ectoderm

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38
Q

Branchial Arch 1 develops what
- Nerve
- Muscle
- Skeletal Structure

*SUSPECTED QUESTION *

A

1st arch
- Trigeminal Nerve - CN 5
- Tensor Tympani & Tensor Palatini
- Malleus & incus

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39
Q

Branchial Arch 2 develops what
- Nerve
- Muscle
- Skeletal structure

A

2nd arch
- Facial nerve - CN 7
- Stapedius Muscle
- Stapes

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40
Q

Tympanic Cavity & ET development

A

formed from 1st pouch & ectoderm
TC- Distal 1st pouhc
ET- proximal 1st pouch

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41
Q

Ossicle formation

A

1st & 2nd arches
made of cartilage
TC surround month 8

42
Q

1st & 2nd Branchial Arch syndromes
*SUSPECTED QUESTION *

A

Treacher Collins
Pierre Robins
Sticklers

43
Q

The Labyrinth will develop into

A

cochlea & Vestibular sytem

44
Q

Inner ear development

A

begins at 22 days
otic placode Thickens & endodermal Part invaginates to form otic pit
otic pit = Otic Vesicle
OV splits into ventral and doral
Ventral = Saccule & Cochlear duct
Dorsal = SSC, Utricle and endolympathic duct

45
Q

Cochlea development

A

Otic placode invaginates = otic pit
otic pit = Otic vesicle
OV split into ventral and dorsal
Ventral= cochlear duct & saccule
dorsal = SSC, Utricle & endolympatic duct

@wk 6 saccule pole = cochlear duct
cochlear duct extends penetrating connetive tissue in a spiral
@ week 8 - 2 3/4 spiral is complete = cochlea

46
Q

Vestibular system

A

Otic placode invaginates = otic pit
otic pit = Otic vesicle
OV split into ventral and dorsal
Ventral= cochlear duct & saccule
dorsal = SSC, Utricle & endolympatic duct

@ week 6 flattened pockets, central potrion dissapers to flattened pockets
giving rise to SSC
SSC, uticle & saccule filled with endolymph
bone forms around SSC

47
Q

1st & 2nd brachial Arch syndrome Symptoms

A

Cleft lip/ cleft palate
small lower jaw
external auditory canal abnormalities or atresia

48
Q

Mitosis cycle

A

Somatic Cells
Interphase- G1,S &G2
Mitosis- PMAT
- Prophase
- Metaphase
- Anaphase
-Telophase
Cytokinesis- division of cytoplasm , development of 2 identical diploid daughter cells.

49
Q

Mitosis key points
*****

A

Somatic Cell, 2 identical diploid daughter cells, 1 division cycle, replaces dead cells

49
Q

Meiosis

A

Germ cells
Meiosis 1 = PMAT & Cyokinesis.
- ends with 46 chromatid, 23 pairs
Meiosis 2= PMAT& C
- ends with 4 haploid daughter cells

50
Q

Meiosis Key Points

A

Germ cells, 2 division cycles, ends with 4 haploid daughter cells, produces gametes,

51
Q

Humans have______ chromosome

A

Humans have 23 chromosome pairs, 46 chromatids

52
Q

nucleotides and base pairing
DNA

A

Adenine & Guanine
Cytosine & Thymine

remember AG, Alyssa garza

53
Q

nucleotides and base pairing
RNA

A

Adenine & Guanine
Cytosine & Uracil

remember AG, Alyssa garza

54
Q

what are the three types of point mutations?

A

nonsense, silent mutations and missense mutation

55
Q

what are nonsense mutations?

A

codes for a stop codon, prematurely stopping a protein translation. all nonsense mutations are bad.

56
Q

what are silent mutations?

A

is when it codes for the same amino acid but with the wrong or incorrect codon. but the result is the same.
EX: UUU or UUC they both = phenylalanine

57
Q

what are missense mutation?

A

two types of missense mutations. Conservative and non-conservative

58
Q

what is Conservative missense mutation?

A

results in a different amino acid but they are not problematic. as long as you get a result that is similar to the original amino acid.

59
Q

what is non- Conservative missense mutation?

A

Not a forgiving mutation, has a phenotypic effect. it could be lethal if it is an amino acid that do go together or it could juts result in an amino acid that the protein didn’t need.

60
Q

frame shift mutation

A

can occur because of insertion or deletions of a single or more base pair.
it codes incorrectly since it only read 3 at a time.
original: ACG AGG ACU GCA
deletion example A CGA GGA CUG CA
insertion example : AAA CGA CGA GGA CUG CA

61
Q

genetic testing; benefits

A

● accurate diagnosis and prognosis
● Provide scientific explanations of why the problem occurred, and therefore, preventing/removing the blame game
● Recognition of the risk of associated structural anomalies (e.g., congenital heart defects, JLNS)
● Recognition of the risk of associated developmental handicaps (e.g., learning & intellectual disability)
● Provide accurate recurrence risk for offsprings

62
Q

genetic testing; potential issues not seen with other medical tests

A

● Provides information affecting reproductive choices

● Misassigned paternity (dad may not be the biological dad)

● Insurance discrimination

● The Deaf community has a predominantly negative attitude towards genetics and genetic testing

63
Q

Chromosomal abnormalities (number, structure)

A

Monosomy: deletion of a chromosome (missing 1 chromosome) Often lethal, not survivable to any autosome (somatic cells). Exception sex chromosome can result in live birth.
Trisomy: addition of a chromosome (3 chromosomes total)
MOST COMMON: 21, 18, 13

Nullisomy: no chromosome for that pair - lethal

64
Q

Down syndrome

A

Trisomy; Chromosome 21

65
Q

Trisomy’ s
numbers and disorder

A

○ 21 Downs
○ 18 Edwards
○ 13 Patau
○ X - Klinefelters

66
Q

Genomic Imprinting
- what its is
- Disorder w/ it

A

Phenotype changes based on which parent passes down the gene
Prader Willi Syndrome
Deletion of chromosome 15 of paternal origin
Angelman syndrome
Deletion of chromosome 15 of maternal origin

67
Q

Genetic Anticipation

A

Anticipation: the worsening of symptoms of a genetic disease from one generation to the next

68
Q

Allelic Expansion

A

Allelic expansion: increase in gene size and caused by an increase in the number of trinucleotide based sequences
Myotonic dystrophy
Huntington’s disease
Fragile X Syndrome

69
Q

Mitochondrial Inheritance
- what is it
- example

A
  • Only mother can pass down & 100% of offspring inherit
  • Leber’s hereditary optic neuropathy (sudden loss of central vision)
70
Q

Polygenic

A

One gene → one small impact on phenotype

71
Q

Multifactorial

A

resulting from the interplay of multiple environmental factors with multiple genes
Oculo-Aricular-Vetebral (OAV)

72
Q

Y-Linked Inheritance

A

Rare! Passed from father to son (the fathers Y has to be passed down to be the sons Y)
No father to daughter transmission

73
Q

X-linked Dominant Inheritance
-what
- ex

A
  • the female with the abnormal gene on the X chromosome will manifest the disease condition regardless of what is on the other X-chromosome
  • BOTH SONS AND DAUGHTERS HAVE A 50% CHANCE OF INHERITING THAT TRAIT FROM THEIR MOTHER AND EXPRESSING
    no- father to son
  • alports
74
Q

X-linked Recessive Inheritance:

A
  • No father to son transmission
    Transmission from unaffected female carriers to males
  • All daughters of a male with the trait will be carriers (supporting X)
    Carrier females will have a
    50% chance to have sons with abnormal trait
    50% to have carrier daughters
    50% to have normal offsprings

ex: Color blindess, Hemophillia

75
Q

Autosomal Recessive Inheritance:

A

Two identical copies of the gene are required
25% chance of occurrence per pregnancy
- Pendred, ANSD,Ushers

76
Q

Treacher Collins syndrome
- Inheratance
- From
- HL
- Symptoms
-DD

A

Treacher Collins syndrome

Autosomal Dominate
1st Arch Syndrome
Bilateral CHL
Peanut ear/atreria
Smaller lower jaw
Large mouth
Coloboma- eye
DD: OAV

77
Q

BOR: Branchio-oto-renal
- Inheratance
- From
- HL
- Symptoms
-DD

A
  • Autosomal Dominate
  • 2nd arch
  • Conductive,SNHL, Mixed
  • EARS & KIDNEYS
    -Renal/kidney Problems
    - Pinna Malformation
    - HL
    -DD: Alports Syndrome
78
Q

OAV; Oculo-Aurticulo-vertebral
- Inheratance
- HL
- Symptoms
-DD

A
  • Multifactoral
  • CHL-COMMON
    -SNHL-rare
  • EYE,EAR,VETEBRA
    Small lower jaw
    Spina Bifida,scoliosis
    Unilateral or bilateral
    Deafness
    Blindness
79
Q

CHARGE
- symptoms
- Inheritance

A

CHARGE
C- Coloboma of the eye
H- Heart Defects
A- Atresia of nasal
R- Retard- development
G- Gential abnormalities
E- Ear Abnormlies and or deafness
SNHL, Progressive
- Kidney problems
-behavioral issues
-autosomal dominate

80
Q

Ushers, all types

A

Progressive SNHL
Blindness w/Redness Pigmentosa
Autosomal Recessive

Type 1
Congenital Severe - profound SNHL
Abnormal Vestib - gait ataxia
Delayed motor
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

Type 2
Congenital mild-severe SNHL
Normal Vestibular
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

Type 3
Rare
Progressive SNHL
Progrestive Vestibular dysfunction
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

DD: OAV????

81
Q

Ushers type1

A

Type 1
Congenital Severe - profound SNHL
Abnormal Vestib - gait ataxia
Delayed motor
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

82
Q

Ushers type 2

A

Type 2
Congenital mild-severe SNHL
Normal Vestibular
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

83
Q

Ushers type 3

A

Type 3
Rare
Progressive SNHL
Progrestive Vestibular dysfunction
Progressive Vision loss (Blindness)
w/Redness Pigmentosa

84
Q

Norrie Syndrome
- Inheratance
- HL
- Symptoms
-DD

A

Norrie Syndrome
- X-Linked
- Progressive SNHL
- Progressive Blindness
- Seixures
- mental issues (bipolar etc)
-DD: CMV, Usher, Rubella

85
Q

Crouzon’s syndrome

A

-AD
- CHL
- buldging eyes, small lower jaw, vision problems

86
Q

Sticklers
- Inheratance
- HL
- Symptoms
-DD

A

Sticklers
-Autosomal Dominant
-Underdeveloped middle of face
-Small lower jaw
-Near-sightedness
-CHL or Mixed
-Joint problems

87
Q

Achondroplasia
- symptoms
-inheritance

A

Dwarfisum
Autosomal Dominate
Short extreamties (Arms & legs)
Normal Abdominal

88
Q

Osteogenesis imperfecta
- symptoms
- inheratnce

A

Osteogenesis imperfecta
Autosomal Dominant
Cardiovasular problems
Blue Sclara
CHL or mixed

89
Q

Alport syndrome
Inhertance
symptoms
DD

A
  • X-Linked Dominant or X-Linked Recessive
    -AR or AD- VERY RARE
    -SNHL
    -Nephritis
    dd: BOR
90
Q

Charcot Marie tooth disease
- Symptoms
- inheritance

A

Charcot Marie tooth disease

SNHL, slow progressive
absent reflexes (limb)
- X- Linked recessive
- AD
- AR

91
Q

Frederick’s ataxia
- Symptoms
- inheritance

A

Frederick’s ataxia
Autosomal Recessive
Nystagmus
speech dysarthria
absent Babinski
Scoliosis
enlarged heart
SNHL

92
Q

Neurofibromatosis (NF) 1

A

AUTOSOMAL DOMINATE

More than 6 Cafe Au Lait spots

Cutaneous and subcutaneous tumors ( on or under skin)
increased number

93
Q

NF 2

A

autosomal dominant & spontaneous mutation 50/50 %
0 - 6 Cafe Olé spots
Progressive vision loss
bilateral acoustic neuroma
Less common than NF1

94
Q

JLNS,
-inheratnce
-symptoms
-HL
-DD
**

A

JLNS,
Autosomal Recessive
Bilateral SNHL
heart issues, heart disease
sudden death
DD; Ward-Roman Syndrome

95
Q

pendreds
-Inheratnce
- Symptoms
- HL
-DD

A
  • Autosomal Recessive (2nd MC)
  • Thyroid issue
  • EAV Enlarged vestibular aqueduct
  • Goiter
  • SNHL 100%
    dd: SNHL non-syndromic
    connexin deafness
96
Q

Waardenburg’s
- inheratnce
- Name how many types

A

autosomal dominant
Most common autosomal dominant
four types (WS 1- WS4)

97
Q

Waardenburg’s 1

A

Most common out of all 4 types
autosomal dominant
Most common autosomal dominant
wardenburg syndrome1
- bilateral or unilateral Hearing loss
- white for Forelock
- albinism

98
Q

wardenburg syndrome2

A

white for Forelock
Albinism
unilateral Hearing loss - less likely

99
Q

wardenburg syndrome3

A

White forelock of hair
abnormal shortness of Limbs
No HL

100
Q

wardenburg syndrome4

A

rare
White for lock of hair
Deafness

101
Q

Sugar + Base + Phosphate = NUCLEOTIDE
Base Pairing: A+T, C+G (consonants)
3 STOP CODONS: UAA, UAG,UGA
1 START CODON: AUG (methionine)

A

Written Comps Year 1 (12 decks)

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