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Genetics Flashcards

1
Q

How is Marfan’s inherited

A

autosomal dominant

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2
Q

Which gene is mutated in Marfan’s

A

missense mutation in chromosome 15q21
Codes for fibrillar FBN 1

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3
Q

Clinical presentation of marfan’s

A

Tall
Down slanting palpebral fissures
Aorta root dilatation and dissection
Mitral valve prolapse
spontaneous pneumothorax

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4
Q

How is CF inherited

A

Autosomal recessive disorder of exocrine gland function

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5
Q

What gene is mutated in CF

A

CFTR gene found on chromosome 7

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6
Q

Function of CFTR

A

ATP responsive chloride ion channel
Inhibits epithelium Na channels

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7
Q

How dose mutation of CFTR cause CF symptoms

A

Resp. epithelium fai to secrete Chloride ions and hyper absorbs Na ions and water -> dehydration of airway surface

surface becomes sticky
Cillia can’t work probably - bacteria grow

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8
Q

Pancreas in CF

A

Enzymes are produced but can’t be released due to defects in channels -> causing dehydration of pancreatic secretions

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9
Q

Presentation of CF in newborn

A

Positive new born screening test
meconium ileum
jaundice
pseudo-barter syndrome (hypochloremaic, hypokalaemia alkalosis)
hypoalbuniemia

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10
Q

Other presentation of CF

A

Recurrent chest infections - teenages pseudomonas
Bronchiectasis
steathorrea
faltering growth
diabetes
Nasal polyps
Distal intestinal obstruction
Infertility - 99% of males

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11
Q

Newborn screening test in relation to CF - what is raised

A

immunoreactive trypsin - raised in first 6 weeks of life with CF

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12
Q

Other Ix for CF

A

Sweat test - chloride ions >60 is diagnostic
Molecular gene testing

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13
Q

Treatment for CF

A

Chest physio - minimum twice daily
hypertonic 7% saline
long-term nebuliser ABX - colomycin / tobramycin
Proph. oral antibiotics
Creon
Calcium replacemnet

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14
Q

How many people carry CF mutation

A

one in 25

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15
Q

Galactosemia features

A

Jaundice - conjugated
Hepatomegaly
Oil-drop cataracts

Ass. coagulopathy and E.Coli sepsis in neonates

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16
Q

How Is galactosemia inherited

A

autosomal-recessive

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17
Q

What gene has a mutation in galactosemia

A

mutations and deficiency of galactose-1-phosphate uridyltransferase GALT enzyme

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18
Q

What function can’t happen in galactosemia

A

Can’t metabolise galactose or lactose

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19
Q

Management of galactoseamia

A

Lifelong diet modification
lactose and galactose free diet

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20
Q

What are Trisomy 18 (Edwards syndrome) dysmorphic features

A

Large occiput
rocker-bottom feet
Overlapping digits

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21
Q

Newborns with Trisomy 18 features

A

Micrognathia
IUGR
Hypertonia
small mouth

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22
Q

Trisomy 18 ass. features

A

cataracts
DDH
congenital heart disease - ventricular septal defects
diaphragmatic hernia
Renal abnormalities - horseshoe kidney

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23
Q

What is Tay-Sachs disease?

A

neurodegenerative lysosomal storage disorder

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24
Q

How is Tay-Sachs disease inherited?

A

autosomal-recessive disorder

More common in Ashkenzai Jewish descent - 1/250 to 1/300

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25
How is CAH inherited
Autosomal recessive
26
What does Gilbert syndrome cause?
Isolated unconjugated high bilirubin Normal LFT's No heamolysis Autosomal recessive
27
What mutation is found in Gilbert's Syndrome
UGT1a1 gene located on 2q37 Reductive in production of enzyme UDP-UGT which is responsible for the conjugation of bilirubin
28
What is most common cause of Prader-willi syndrome
deletion of paternal chromosome 15q11-q13 maternal uniparental disomy 15
29
Presentation of Prader-Willi syndrome
severe neonatal hypotonia Difficulties feeding Weight gain Short stature - growth hormone defiency Facial features - narrow forehead, almond shaped eyes, thin upper lip, down turned mouth Hypogonadism Hypothyroidism Learning disabilities
30
What do you need to test for diagnosis of Prader-Willi syndrome
DNA methylation analysis
31
What type of genetic mutation is in myotonic dystrophy
trinucleotide nuclear expansion
32
What gene is involved in Retts Syndrome
MECP2
33
How is nuerofibromatosis type 1 inherited
Autosomal dominant Half are de novo mutation
34
Presentation of NM1
Cafe au lait Axillary / groin freckles Lisch nodules- raised tan coloured haemartomas of the iris ossesous lesions hTN Neurofibromas - more common in adolescents and adults Cognitive impairment
35
Differences between NF1 and NF2
NF2 never has cafe-au lait spots axillary and groin freckles not common in nF2 Lish nodes diagnostic of NF1 Neurofibromas in NF1, NF2 swahanomas and neurilemmonas NF2 not ass. with cognitive impairment
36
How are mutations in mDNA inherited?
Mother inheritance
37
How are mutations in nDNA inherited?
Follow autosomal dominant / autosomal recessive / X linked pattern
38
Age of onset of mDNA mutations
adults
39
Age of onset of nDNA mutations
children
40
Is lactic acidosis more common to be seen in mDNA or nDNA mutations
mDNA
41
What to primary mitochondria disorders lead to ?
Decrease in ATP production Increase in reactive oxidative spieces (ROS) = leads to state of oxidative stress Increase ROS damage mtDNA and nDNA, protein and lipid oxidation have bad affect on multiple organ systems
42
What does array comparative genomic hybridisation (aCGH) look for?
Chromosomal copy number variations Compares patient DNA to control DNA Detects deletions and duplications
43
What does fluorescence in situ hybridisation FISH look for?
Allows for targeted investigation of copy number variations and structural rearrangements Only detects abnormalities in region targeted by chosen probe
44
Trisomy 13 - Patau syndrome features
Closely-spaced eyes Midline cleft lip and palate Holoprosencephaly Polydactyly Cardiac abnormalities
45
What mutation causes DiGeorge syndrome?
Deletion at 22q11 region of one copy of chromosome 22 Majority of cases De Novo Autosomal dominant
46
Name conditions that are inherited in Autosomal dominant method?
Myotonic dystrophy Achondroplasia Tuberous sclerosis NF1 Marfans syndrome
47
Name conditions that are Imprinting disorders
Beckwith-Wiedemann syndrome Angelman syndrome Prader-Wili syndrome Albight's hereditary oestodystropgy
48
DiGeorge syndrome characteristics
Short stature transient neonatal hypocalcemia Cleft palate Abnormalities with T cell function TOF
49
Cause of DiGeorge syndrome
deletion of 22q11 De Novo
50
Cause of Angelman Syndrome
Paternal uniparental disomy of chromosome 15 Gene codes for UBE3A Inherits both copies from Dad - none from mum
51
Angelman Syndrome characteristics
Ataxia Happy disposition Wide mouth Microcephaly
52
Beckwith-Wiedemann Syndrome
Abnormalities at the imprinted 11p15 growth regulatory region Paternal uniparental disomy at chromosome 11p15
53
Beckwith-Wiedemann Syndrome features
pre- post natal overgrowth neonatal hypoglycaemia coarse facial features exomphalos earlobe creases Increase risk of wilms tumour
54
How is Lesch-Nyhan syndrome inherited
X-linked disorder
55
Features of Lesch-nyhan syndrome
Gout gross motor delay self-mutilating behaviour
56
What happens in Lesch-nyHan syndrome
Over production of uric acid
57
Features of William's syndrome
Mild microcephaly Learning disabilities Talkative - can usually hide degree of difficulty
58
What is HLA b27 related with?
Reactive arthritis Ank spondylitis
59
What is HLA B47 associated with?
21 hydroxylase defiency
60
What is HLA CW6 associated with?
psoriasis
61
What is HLA DR2 associated with?
multiple sclerosis SLE
62
Criger- Najjar signs
severe unconjugate hyperbole
63
What mutation is found in Criger-Najjar syndrome
mutations in UGT1A1 Leads to enzyme defect involved in converting unconjugated to conjugated Autosomal recessive
64
What is first line test for global development delay
microarray
65
Incontinentia pigmenti
X-linked dominant Linear cuteanous lesion that start blistering rash at birth - > become wart like growth and hypigmentation
66
What is anticipation
Increase length of unstable area in gene - longer unstable area of gene, more severe and earlier disease progression Myotonic dystrophy
67
What gonadal mosaicism
Parents have mutation in germ cells and not in somatic cells Achondroplasia Osteogenesis imperfecta Duchenne muscular dystrophy
68
Fragile X - trinucleotide expansion
cytosine-guanine - guanine C-G-G
69
Why does SMA occur
degeneration of alpha motor neurones in anterior spinal horn of spinal cord deletion or mutation in SMN1 gene Autosomal recessive
70
Di George Syndrome - Catch 22
Cardiac Abnormal facies Thymic aplasia Cleft palate Hypocalcaemia / hypoparathyroidism Microdeletion of 22q11.2
71
Southern blotting
Presence of absence of specific DNA fragments in mixture of DNA
72
Noonan sydnrome mutation
PTPN11
73
Cri-du-CHat
High pitch scream 5p deletion
74

TAS (18 decks)

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