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OS 201 > Usual and Unusual Patterns of Genetics > Flashcards

Usual and Unusual Patterns of Genetics Flashcards

0
Q

T or F

Virtually all diseases, except trauma, have a genetic component

A

True

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1
Q

T or F

There is complementary base pairing among bases

A

True

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2
Q

Genes present in human genome that code human proteins

A

22000 genes

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3
Q

T or F

‘Junk DNA’ make up as much as 90 percent of the genome

99.9 bases are exactly the same among people

A

True

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4
Q

Doctor from Italy who impregnated 6 women with clone babies

A hoax

A

Dr…

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5
Q

Cause of diseases

A

Variations in genes

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6
Q

Genetic Risk Factors
Genetic Protective Factors
Environmental Risk Factors

A

Interrelation of factors

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7
Q

Know the sex, preference, lifestyle, predisposition to certain illnesses

Employers will use this information

To a certain extent is true

A

Genetic determinism

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8
Q

T or F

Genes are fixed

A

False

Epigenetics
Refer to changes in gene function that occur without changes in gene sequence
Reversible by environmental factors

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9
Q

How to silence genes?

A

DNA methylation

Histone modification

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10
Q

Gene that dictates mammalian code

A

‘Aguti’?

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11
Q

Low technology tool offering high technology medicine
Not just for genetic disorders
Identify at risk and not at risk
Aids in reaching a correct diagnosis and an accurate prognosis

A

Family History

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12
Q

Taking a Family History

A

Ask about early onset preventable diseases
Ask about informative relatives
Record racial and ethnic background
About 2nd degree consanguinity

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13
Q

Common Red Flags

A 
Reproductive or prenatal history issues
-sterility, miscarriages
Early or unexpected death
-infantile death
Cognitive and behavioral disorders
Growth and stature disorders
Sensory organ deficits
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14
Q

Family History

A 
S
C
R
E
E
N
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15
Q

Provides a pictorial representation of diseases within a family
Tool for making a medical diagnosis
Educating the patient
Distinguishing genetic from other risk factors

A

Family Pedigree

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16
Q

Tongue rolling

A

Dominant

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17
Q

Dangling earlobe

A

Dominant

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18
Q

Confounding factors in recognizing patterns of inheritance

A

Variable expressivity

Small paternity size

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19
Q

Primary explanation for confusion in pedigree explanation

A

Non-paternity

To heir is human

20
Q

Multiple generations affected

Male to male transmission does occur

A

Autosomal dominance

21
Q

Autosomal dominant condition
Children will present shortening of the limbs
Midface hypoplasia
Short stature

A

Achondroplasia

22
Q

Autosomal dominant condition
Towerhead scalp
Premature closure of suture
Supraorbital hypoplasia

Every time the babies cry, their eyes will pop out

A

Crouzon Syndrome

23
Q

Tall forehead
Deformity of the hands and feet
Have severe mental handicap

A

Apert Syndrome

24
Q 
Tall stature
Very, very thin
Long fingers
Myopia, lens dislocation
Aortic dilation
Autosomal dominant condition
A

Marfan Syndrome

25
Q

Collagen defect
Skin can be stretched out
Abnormal wound healing

A

Ehlers - Danlos Syndrome

26
Q

Characteristics of autosomal recessive inheritance

A

…

27
Q

Sloughing off of the skin
Accelerated turn-over of the skin
Pseudo-amputation

Treatment is retinoic acid

Inherited in autosomal recessive condition

A

Harlequin fetus

28
Q

Mucopolysaccharides not broken down

A

Mucopolysaccharidosis I Hurler

29
Q

Children born normal
Urine is maple
First 2 weeks - seizures, coma
Branched chain of amino acids not broken down properly

Included in the Newborn Screening
Concentrated in the Pampanga area

A

Maple Syrup Urine Disease

30
Q 
Lack the enzyme that breaks down milk
Children develop cataracts
Hepatomegaly
Jaundice
E. coli sepsis

Treatment: Soy-based formula

A

Galactosemia

Genetically determined so we can’t do anything

31
Q

Characteristics of X-linked recessive inheritance

A

Higher in males than females

All daughters of affected males will be carriers

32
Q

X-linked disorder

Can’t be passed from father to son

Why?

A

Men inherit X from mothers

33
Q

Waddling gait
Exaggerated lumbar lordosis - compensation for proximal weakness
Pseudo-hypertrophy

A

Duchenne Muscular Dystrophy

34
Q

Born normal looking
Age 3 or 4, develop caveman features
Don’t grow in height
Loss of skills

A

Mucopolysaccharidosis II Hunter

35
Q

Most common, 1 in 50 individuals
Substances that they should avoid: soy-based, anti-malarial drugs, mongo, blueberries, tofu, soy sauce
Hemolytic crisis

A

G6PD Deficiency

36
Q 
Born normal
Around 30-40, involuntary movements known as dystonia
Parkinsonism
Intact cognition 
Speech becomes unintelligible

Panay
Treatment: Deep braim stimulation

A

XDP

X-linked Dystonia Parkinsonism

37
Q

Characteristics of X-linked

A

…

38
Q

Washer woman’s hand
Cause of death is aspiration
Males with this syndrome do not survive

A

Rett Syndrome

39
Q

Unusual pattern of inheritance
1 in a 1000
Dogs can have

A

Oral cleft

40
Q

Unusual patterns of inheritance

Prevention: Folic acid, 4 mg at least 1 month prior to conception up to first trimester

A

Neural tube defect

Anencephaly

41
Q

Mitochondrial inheritance

A

Maternal

Mitochondria comes from mothers!

42
Q

Heteroplasmy

Homoplasmy

A

<3

43
Q

Myotonic Dystrophy
Fragile X
…

A

Triplet Repeat Expansion Disorders

44
Q

Macroorchidism of the testicles
Speech delay
Autism

A

Fragile X

45
Q

Only one copy of the gene is expressed

A

Genomic imprinting

46
Q 
Walang kabusugan
About 2, obese
Small feet
Grab food from garbage cans, classmates
Uncontrolled obesity

Deleted gene comes from the father

A

Prader-Willi Syndrome

47
Q

Deleted gene comes from the mother
Happy puppet syndrome
Ataxia
Inappropriate laughter

A

Angelman Syndrome

48
Q

Lesch-Nyhan

Kapag dominant kay Mom
Nag-manifest kay Dad

A

X linked disease

OS 201 (9 decks)

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