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Qs Based off Practical Book Flashcards

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1
Q

What Materials / Reagents are needed for Cell Cultures?

A
  • Sodium Heparin
  • Culture Medium
  • Fetal Bovine Serum
  • Antibiotics
  • Mitogen
  • Colchicine
  • Potassium Chloride Solution
  • Methanol
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2
Q

What are BONE MARROW Cultures used for?

A
  • To Identify CHROMOSOME ANOMALIES
  • IN Hematopoietic Cells
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3
Q

What are BANDING TECHNIQUES?

A
  • Allow PRECISE Identification of EACH Chromosome
  • DETECT STRUCTURAL Chromosomal Rearrangements
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4
Q

What are the Different Types of Banding Techniques?

A

1) Routine Staining = Stained w/ GIEMSA

2) Q-Banding = Requires FLUORESCENT Microscope

3) G-Banding = Treat w/ TYPRSIN, and THEN GIEMASA

4) C-Banding
- Tests CENTROMETRIC Region
- Tests for MULTIPLE Centromeres
- Test with HCL and THEN w/ RNAse + NaOH
- Chr 1, 9, 16

5) High Resolution = PROVIDES PRECISION in delineation of Chromosomal breakpoints + ASSIGNMENT of Gene Loci

6) Sex Chromatin Analysis = Indicates PRESCENCE of Chromatin Mass; Taking BUCCAL SMEARS

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5
Q

What is the X-Sex Chromatin?

A

Barr Body

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6
Q

Which Stage of Cell Division can we see Sex Chromatin?

A

INTERPHASE of Cell Cycle

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7
Q

Which Material is OBTAINED for Testing the X-Sex Chromatin?

A

Blood Culture

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8
Q

What is the Type X / Y

AND N.O of Sex Chromosomes in Individuals?

A
  • 0 Barr Body = 45, X
  • 1 Barr Body = 46, XX OR 47,XXY
  • 2 Barr Bodies = 47, XXX
  • 3 Barr Bodies = 48, XXXX
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9
Q

What is the Philadelphia Chromosome?

AND in Which Disease?

A
  • t(9 ; 22)
  • Chronic Myeloid Leukaemia (CML)
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10
Q

What is AUTOSOMAL DOMINANT Inheritance?

A
  • Disorder is NOT transmitted by UNAFFECTED Family Members
  • REGARDLESS of Male or Female
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11
Q

What are the CHARACTERISTICS of Autosomal DOMINANT Inheritance?

A
  • BOTH M + F are EQUALLY affected!
  • Disorder is TRANSMITTED BY BOTH M + F
  • MALE-to-MALE Transmission Occurs
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12
Q

What are the EXAMPLES of Autosomal DOMINANT Inheritance?

A
  • Osteogenesis Imperfecta
  • Vitamin D-RESISTANT Rickets
  • Incontinentia Pigmenti
  • Rett’s Syndrome
  • Huntington’s Disease
  • Myotonic Dystrophy Type 1
  • Familial Breast Cancer
  • Familial Hypercholesterolemia
  • Neurofibromatosis
  • Tuberous Sclerosis
  • Achondroplasia
  • Autosomal Polycystic Kidney Disease
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13
Q

What are TRINUCLEOTIDE REPEAT DISORDERS?

A
  • Mutation where Trinucleotide REPEATS in CERTAIN GENES
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14
Q

What is HUNTINGTON CHOREA?

A

**Autosomal DOMINANT Disorder

  • PROGRESSIVE disorder of Motor, Cognitive, Psychiatric Disturbances

0 +ve Family History
0 MORE CAG Trinucleotide REPEATS
0 Asymptomatic Adults = 50% RISK
0 Prenatal Pregnancy = 25% Risk

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15
Q

What is MYOTONIC DYSTROPHY?

A

**Autosomal DOMINANT Disorder

  • MULTI-SYSTEM Disorder, affecting SKELETAL / SMOOTH Muscle

a. Mild DM1
- Cataract
- Mild Myotonia
- Normal Lifespan

b. Classic DM1
- Muscle Weakness / Wasting
- Myotonia
- Cataract
- Cardiac Conduction Abnormalities

c. Congenital DM1
- Hypotonia
- Severe generalised Weakness at birth

0 CTG Trinucleotide REPEATS in NON-CODING Region

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16
Q

What is NEUROFIBROMATOSIS?

A

**Autosomal DOMINANT Disorder

  • Multiple CAFE AU LAIT SPOTS
  • Axillary / Inguinal Freckling
  • Multiple Cutaneous Neurofibromas
  • Iris Lich Nodules
  • Learning Disabilities
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17
Q

What is ACHONDROPLASIA?

A

**Autosomal DOMINANT Disorder

  • De Novo Mutation
  • Disproportionate Small Stature
  • Frontal Bossing
  • Midface Retrusion
  • Hypotonia

0 Mutation in FGFR3

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18
Q

What is OSTEOGENESIS IMPERFECTA?

A

**Autosomal DOMINANT Disorder

  • COL1A1/2 - Related
  • Fractures with MINIMAL / ABSENT Trauma
  • Hearing Loss
  • Severe Skeletal Deformities
  • Mobility Impairments
  • Very Short Stature
  • Grey / Brown Teeth

a. OI Type 1 = Non-Deforming w/ Blue Sclera
b. OI Type 2 = Perinatally Lethal
c. OI Type 3 = Progressively Deforming
d. OI Type 4 = Common Variable w/ NORMAL Sclera

0 BIOCHEMICAL ANALYSIS of Type 1 Collagen

0 MOLECULAR GENETIC TESTING of COL1A1 / COL1A2

0 GONODAL Mosaicism

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19
Q

What is PKD, AUTOSOMAL Dominant?

A

**Autosomal DOMINANT Disorder

  • Late-Onset MULTI-SYSTEM Disorder
  • Bilateral Renal Cysts; Cysts in OTHER Organs
  • Intracranial Aneurysms
  • Dilation of Aortic Root
  • Dissection of Thoracic Aorta
  • Abdominal Wall Hernias

0 95% RISK with AFFECTED Parent
0 5% De Novo Mutation

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20
Q

What is AUTOSOMAL RECESSIVE Inheritance?

A
  • Disorder in Individuals who are HOMOZYGHOUS
  • For a Particular Gene Recessive Mutation
  • RISK for Offspring = 25%
  • Prenatal Diagnosis
    0 Biochemical Assays
    0 DNA Analysis
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21
Q

What are the CHARACTERISTICS of Autosomal RECESSIVE Inheritance?

A
  • BOTH M + F are EQUALLY affected!
  • BOTH PARENTS are UNAFFECTED Carriers
  • 2/3 Siblings are UNAFFECTED Carriers
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22
Q

What are the EXAMPLES of Autosomal RECESSIVE Inheritance?

A
  • Cystic Fibrosis
  • Sickle-Cell Disease
  • Tay-Sachs Disease
  • Thalassaemia
  • Congenital Adrenal Hyperplasia
  • Homocysteinurea, Phenylketonuria
  • Hurler Syndrome = MPS-1
  • Spinal Muscular Dystrophy
  • Glycogen Storage Type II Disease = Pompe’s Disease
  • Wilson’s Diseas
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23
Q

What is CYSTIC FIBROSIS?

A

**Autosomal RECESSIVE Disorder

  • AFFECTS:
    0 Epithelia of Respiratory Tract
    0 Exocrine Pancreas
    0 Intestine

0 MALE Genital Tract = Infertility due to AZOOSPERMIA

0 Hepatobiliary System

  • MUTATION in F508del EXON
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24
Q

What is CONGENITAL ADRENAL HYPERPLASIA?

A

**Autosomal RECESSIVE Disorder

  • 46, XX
  • DEFICIENCY in 21-Hydroxylase
  • IMPAIRED Synthesis of CORTISOL from Cholesterol (Adrenal Cortex)
  • Results in VIRILISATION + SALT WASTING

0 MOLECULAR GENETIC Testing of CYP21A2
0 MANAGE via HORMONAL THERAPY

  • EMPTY Scrotum
  • Penis RESEMBLES Clitoris
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25
What is SPINAL MUSCULAR ATROPHY?
**Autosomal RECESSIVE Disorder - PROGRESSIVE Muscle Weakness due to DEGENERATION - LOSS of Anterior Horn Cells IN the Spinal Cord + Brain Stem Nuclei - POOR Weight Gain - Sleep Difficulties - Pneumonia - Scoliosis 0 Type 1 = Onset BEFORE 6 Months Old 0 Type 2 = Onset BTW 6 - 12 Months Old 0 Type 3 = Onset AFTER 12 Months Old 0 Type 4 = ADULT Onset - MUTATION in SMN 1 (Survival Motor Neuron1) - ABSENCE in EXON 7
26
What is PHENYLKETONURIA?
**Autosomal RECESSIVE Disorder - DEFICIENCY in PHENYLALANINE HYDROXYLASE - Irreversible Intellectual Disability - Microcephaly - Epilepsy - Musty Body Odour - DECREASED Skin / Hair Pigmentation 0 NEONATAL SCREENING
27
What is the GUTHRIE TEST?
- Making a PINPRICK PUNCTURE in 1 heel of the NEWBORN - SOAKING the Blood into a PRE-PRINTED Collection Cards (Guthrie Cards) - Uses GROWTH of Strain of Bacteria to CHECK for HIGH LEVELS of PHENYLALANINE
28
What is POMPE DISEASE?
**Autosomal RECESSIVE Disorder - aka GLYCOGEN STORAGE DISEASE TYPE 2 - Hypotonia - Generalised Muscle Weakness - Hearing Loss - Feeding Difficulties - Cardiomegaly = Enlarged Heart 0 Measure acid, APHA-GLUCOSIDASE Enzyme Activity 0 Hepatic Biopsy
29
What is MUCOPOLYSACCHARIDOSIS?
**Autosomal RECESSIVE Disorder - DEFECTIVE ACTIVITY of the LYSOSOMAL ENZYMES - Leading to ABNORMAL Accumulation of Heparan Sulfate / Dermatan Sulfate / Keratan Sulfate - CVS Disease - Pulmonary Disease - Ophthalmologic Disease - Hearing IMPAIRMENT 0 Urinalysis 0 Serum Assays for LYSOSOMAL Enzymes - Short Stature - Large Head - Mild Kyphosis - Coarse Facial Features - Saddle Nose - Cloudy Corneas - Short Limbs 0 TREATMENT via ENZYME Replacement Therapy / BONE MARROW Replacement
30
What is WILSON's DISEASE?
**Autosomal RECESSIVE Disorder - DISORDER of COPPER Metabolism - Recurrent Jaundice - Rigid Dystonia - Neurotic Behaviours - KAYSER-FLEISCHER RINGS 0 LOW Serum Copper / Ceruloplasmin Conc. 0 INCREASED Urinary Copper Excretion 0 MUTATION in ATP7B 0 TREATMENT VIA Chelation to Bind Copper / Liver Transplant
31
What is HEMOGLOBINOPATHY?
**Autosomal RECESSIVE Disorder - ABNORMAL Structure of Globin Chains of Hemoglobin Molecule E.g. BETA THALASSEMIA - Severe Anaemia - Hepatomegaly = Enlarged Liver 0 TREATMENT via Regular Transfusion / Chelation Therapy 0 MOLECULAR GENETIC TESTING of HBB
32
What are the CHARACTERISTICS of X-LINKED RECESSIVE Inheritance?
- When MALES are affected - Due to SINGLE Copy carried out by X Chromosome - TRANSMISSION via ONLY Females! - ALL DAUGHTERS of AFFECTED MALES = Carriers
33
What are the EXAMPLES of X-LINKED RECESSIVE Inheritance?
- Becker Muscular Dystrophy - Colour Blindness - Duchenne Muscular Dystrophy - G-6-P-D Deficiency - Haemophilia A, B - Hunter Syndrome = MPS-II - Lesch-Nyhan Syndrome - Moris Syndrome
34
What are DYSTROPHINOPATHIES?
**X-linked RECESSIVE Disorder - Spectrum of Muscle Diseases - Muscle Cramps - Myoglobinuria 0 MUTATION in DMD (codes for protein, Dystrophin) 0 INCREASED Serum in Creatine Phosphokinase 0 50% CHANCE of CARRYING via Carriers 0 DELETION of EXON 44 / 45 a. DUCHENNE Muscular Dystrophy - Early Childhood - Delays Sitting / Standing - Waddling Gait - Cardiomyopathy b. BECKER Muscular Dystrophy - Late Onset - Heart Failure = Left Ventricular Dilation + CHF
35
What is HEMOPHILIA A?
**X-linked RECESSIVE Disorder - DEFICIENCY in FACTOR 8 Clotting - Prolonged Oozing AFTER Injuries / Tooth Extractions a. SEVERE - Deep-Muscle Bleeding - Diagnosed in first 2 years of life - 5 Spontaneous bleeding episodes / month b. MODERATE - DELAYED Oozing AFTER relatively minor trauma - Diagnosed BEFORE 5 / 6 y/o - Bleeding Episode once / month TO once / year c. MILD - Abnormal Bleeding from Surgery 0 10% Carrier Females AT RISK 0 MOLECULAR GENETIC TESTING of F8 0 TREATMENT via Plasma Transfusion / Recombinant Factor
36
What is WISKOTT-ALDRICH SYNDROME?
**X-linked RECESSIVE Disorder -DEFECTS of Platelets / Lymphocytes - AFFECTED MALES with Thrombocytopenia - Intermittent Mucosal Bleeding - Bloody Diarrhoea - Petechiae / Purpura - Frequent Nose Bleeds 0 TREATMENT via BM Treatment / Stem Cells
37
What is GLUCOSE-6-PHOSPHATE DEHYDROGENASE Deficiency?
**X-linked RECESSIVE Disorder - ABNORMAL LOW Levels of Glucose-6-Phosphate Dehydrogenase - Anaemia - Jaundice - Hemolysis 0 +ve FAMILY HISTORY 0 NEONATAL Diagnosis
38
What is MORIS SYNDROME?
**X-linked RECESSIVE Disorder - Problem with TESTOSTERONE Receptor - External FEMALE Genitalia - 46, X Y 0 MUTATION in ANDROGEN RECEPTOR (AR) Gene
39
What is X-LINKED DOMINANT Inheritance?
- Disorder affecting BOTH HEMIZYGOUS Males + HETEROZYGGOUS Females - TRANSMISSION is via FEMALES to Daughters 50%, Sons 50% - TRANSMISSION is via MALES, ONLY to DAUGHTERS - An EXCESS of AFFECTED Females!
40
What are EXAMPLES of X-LINKED DOMINANT Inheritance?
- Vitamin D-RESISTANT Rickets - Rett Syndrome - Incontinentia Pigmeti - Goltz Syndrom
41
What is FRAGILE X SYNDROME?
**X-linked DOMINANT Disorder - MODERATE Intellectual Disability in AFFECTED MALES! - MILD Intellectual Disability in AFFECTED FEMALES! - Large Head - Long Face - Prominent Forehead / Chin - Protruding Ears - Large Testes after Puberty 0 MUTATION in FMR1
42
What is INCONTINENTIA PIGMENTI?
**X-linked DOMINANT Disorder - Disorder that affect Skin / Hair / Teeth / Nails / Eyes / CNS - Blisters - Wart-like Rash - Swirling Macular Hyperpigmentation - Linear Hypopigmentation - Alopecia - Hypodontia - Neovascularisation of Retina 0 MOLECULAR GENETIC TESTING of IKBKG 0 DELETION of EXONS 4 to 10
43
What is the DEFINITION for CHROMOSOMAL DISORDERS?
- A Chromosome ANOMALY - Is a MISSING, EXTRA or IRREGULAR Portion of Chromosomal DNA - Due to a ATYPICAL N.O of Chromosomes or STRUCTURAL Abnormality in 1 OR More Chromosomes
44
What is the DEFINITION for NUMERICAL AUTOSOMAL CHROMOSOMAL Disorders?
Aka ANEUPLOIDY = ABNORMAL N.O of Chromosomes - Due to MISSING Chromosome from a PAIR = MONOSOMY - Due to MISSING MORE than 2 Chromosomes of a Pair = TRISOMY / TETRASOMY
45
What are the TYPES of CHROMOSOMAL ABERRATIONS?
1) Down Syndrome 2) Patau Syndrome 3) Edward Syndrome
46
What is DOWN SYNDROME?
- TRISOMY 21 - Flattened Nose - Small ears / Mouth - Upward Slanting of Eyes - Single Palmar Crease of Hand - ROUNDED INNER Corner of Eyes - ABUNDANT NUCHAL Skin at NAPE of Neck
47
What is the PRE-NATAL DIAGNOSIS for DOWN SYNDROME?
1) NON-Invasive Techniques - Ultrasound - Biochemical Screening = Maternal Blood (2nd Trimester) - Early Screening = FETAL ANEUPLOIDY (1st Trim) 2) US Screening - NT Measurement = INCREASED in TRISOMY 21 - Ultrasonography (2nd Trimester) 3) EARLY Serum Screening Test - 1st Trimester of Pregnancy - Nuchal Transluency - Bipariatal Diameter - Maternal Serum 4) LATE Serum Screening Test - 2nd Trimester - US Markers - Biochemical Markers = AFP, hCG, uE3 5) INVASIVE Techniques - Amniocentesis = 2nd Trimester - Chorionic Villus Sampling (CVS) = 1st Trimester
48
What Happens to the Biochemical Markers in 1st TRIMESTER? AND in 2nd TRIMESTER?
1st Trimester - INCREASED PAPP-A + NT - DECREASED Free hCG 2nd Trimester - INCREASED AFP, uE3 - DECREASED hCG
49
What is the INDICATION for PAPP-A (Pregnancy-Associated Plasma Protein A) Levels?
LOWER than 0.6 MoM
50
What is the INDICATION for hCG (Human Chorionic Gonadotropin) Levels?
Trisomy 21 = INCREASED hCG (MORE than 2.0 MoM) Trisomy 13, 18 = DECREASED hCG (LOWER than 0.7 MoM)
51
What is the INDICATION for AFP (Alpha-Fetoprotein) Levels?
- FETAL MALFORMATION = INCREASED Levels (MORE than 2.5 MoM) - Trisomy 21, 18 = DECREASED Levels (LOWER than 0.7 MoM) - Trisomy 13 = INCREASED Levels than Normal
52
What is the INDICATION for uE3 (Unconjugated Estriol) Levels?
- DECREASED Levels = LOWER than 0.6 MoM a. Trisomy 21 b. Trisomy 13 c. Trisomy 18
53
What is PATAU SYNDROME?
- TRISOMY 13 47, XX, +13 - Disorder where there's 3 COPIES of Chromosome 13 a. Complete Trisomy b. Mosaic Trisomy c. Partial Trisomy - Coloboma - Cleft Lip - Clenched Hands - Congenital Heart Disease - Microcephaly & Mental Retardation
54
What is EDWARDS SYNDROME?
- TRISOMY 18 = 47, XX, +18 - Disorder where there's 3 COPIES of Chromosome 18 a. Mosaic Form b. Translocation Form - Cleft Lip - NOT Distended Testes - Rocker Bottom Feet - Micrognathia
55
What is the DEFINITION for STRUCTURAL AUTOSOMAL ABBERATIONS?
- DUE to GENETIC Diseases FROM TRISOMY / MONOSOMY of Chromosomal Segments Either be: 0 Unbalanced / Balanced 0 De Novo / Inherited from Carrier Parents - FORMED by Chromosomal BREAKAGE
56
What are the TYPES of STRUCTURAL AUTOSOMAL ABERRATIONS?
1) Partial Monosomy 2) Partial Trisomy
57
What is the DEFINITION of PARTIAL Monosomy?
- When a PORTION of the Chromosome as 1 COPY - WHILST THE REST have 2 Copies
58
What is an EXAMPLE of a Disorder of PARTIAL Monosomy?
0 CRI-DU-CHAT Syndrome = Cat's Cry - 5p minus Syndrome = Piece of Chromosome 5 is MISSING! (46,xx,5p-) OR 46,XX,del(5)(p) - HIGH-PITCHED Cry that sounds like a Cat - Hypotonia - Hypertelorism - Low-Set ears - Small Jaw
59
What is the DEFINITION of PARTIAL Trisomy?
- Where there's an EXTRA COPY of a PART of a Chromosome
60
What is an EXAMPLE of a Disorder of PARTIAL Trisomy?
0 RETHORE Syndrome - Portion of SHORT ARM (p) of Chromosome 9 is DUPLICATED, so there's 3 copies INSTEAD of 2 - 46, XX, t(9 ; 18) - DOWN-SLANTING space BETWEEN eyelids - PROMINENT nose - LARGE, BULBOUS Nose - DOWN-TURNED Corners of the Mouth
61
What is the DEFINITION for GONOSOMAL CHROMOSOMAL Disorders?
- When Aberration AFFECTS the SEX Chromosomes
62
What are the TYPES of GONOSOMAL CHROMOSOMAL Disorders?
1) Turner Syndrome 2) Polysomy X 3) Klinefelter Syndrome 4) Fraccaro Syndrome 5) Polysomy Y
63
What is TURNER SYNDROME?
- LACK of 2nd SEX Chromosome - 45 X - Variant of Hypergonadotropic Hypogonadism - Monoclonal Monosomy X - Short Stature - Broad, Flat Chest - Primary Amenorrhea - Widely Spaced Nipples - Swollen Hands / Feet - Webbed Neck - Heart Defects
64
What is POLYSOMY X?
- Triple X Syndrome - 47, XXX - Where there's an EXTRA chromosome in EACH Cell of a FEMALE! - INCREASED RISK of DELAYED Language Development - Motor-Coordination Problems - Scoliosis - ACCELERATED growth UNTIL Puberty - Reproductive FAILURES
65
What is KLINEFELTER SYNDROME?
- Where there's an EXTRA X Chromosome in a MALE! - 47, XXY - Tall Stature - Gynecomastia = Breast Development in MALE - Cryptorchidism - Inability to PRODUCE Sperm
66
What is FRACCARO SYNDROME?
- Affected in MALES - 49, XXXX Y - Flat, Nasal Bridge - UPSLANTING Palpebral Fissures - IQ Range from 20 - 60
67
What is POLYSOMY Y?
- Where a MALE has an EXTRA Y Chromosome! - 47, X YY - Occurs in 1 : 1000 Male Births - INCREASED Growth Velocity - Seen in Sex Chromosome Trisomies: a. Trisomy X = 47, XXX b. Klinefelter = 47, XX Y c. Polysomy Y = 47, X YY
68
What is the DEFINITION of SINGLE GENE DISORDERS?
- aka MENDELIAN / MONOGENIC Disorders - They are ALTERATIONS in the DNA Sequence of a Single Gene
69
What are the TYPES of METHODS of DNA ANALYSIS?
1) Southern Blot Hybridisation 2) PCR = Polymerase Chain Reaction 3) Linkage Analysis (Indirect Method)
70
What is SOUTHERN BLOT HYBRIDISATION?
1) DETECTION of SPECIFIC DNA Fragments that's SEPARATED VIA Gel Electrophoresis 2) DNA Fragments are DENATURED + TRANSFERRED to a NITROCELLULOSE Membrane Sheet VIA Blotting 3) SUPPORTED on SPONGE in a BATH of ALKALI Solution 4) Buffer is SUCKED THRU the Gel + SHEET via Paper Towels STACKED ONTO the Nitrocellulose Sheet 5) The Buffer DENATURATES the DNA + TRANSFERS the Single-Stranded Fragments 6) The Buffer CONTAINING the Labelled DNA PROBE is SPECIFIC for the TARGET DNA SEQUENCE
71
What is PCR?
POLYMERASE CHAIN REACTION - Focuses on a SEGMENT of DNA - COPIES it BILLION x over! - Used to DIAGNOSE Diseases, IDENTIFY Bacteria / Viruses - Used to MATCH Criminals TO Crime Scenes! 1) Denaturation 2) Annealing 3) Extension
72
What is LINKAGE ANALYSIS? AND What Disease can this Method be Used in?
** An INDIRECT METHOD for DNA Analysis - Finding a ROUGH Location of the Gene, RELATIVE to ANOTHER DNA Sequence (Genetic Marker) - Genetic Markers = DNA Sequences that shoe POLYMORPHISM (Variations in Size / Sequence) E.g. in CYSTIC FIBROSIS
73
What is MYOTONIC DYSTROPHY?
**Autosomal DOMINANT Disorder - MULTI-SYSTEM Disorder, affecting SKELETAL / SMOOTH Muscle a. Mild DM1 - Cataract - Mild Myotonia - Normal Lifespan b. Classic DM1 - Muscle Weakness / Wasting - Myotonia - Cataract - Cardiac Conduction Abnormalities c. Congenital DM1 - Hypotonia - Severe generalised Weakness at birth
74
What is the DEFINITION for NON-MENDELIAN INHERITANCE?
- ANY PATTERN of Inheritance where the Traits DO NOT SEGREGATE according to Mendel's Law
75
What are EXAMPLES of NON-MENDELIAN INHERITANCE?
1) Uniparental Disomy 2) Prader-Willy Syndrome
76
What is UNIPARENTAL DISOMY?
** NON-MENDELIAN Inheritance - DISRUPTION of EXPRESSION of IMPRINTED Genes - DUE to ERROR AFTER Fertilisation with BOTH Chromosomes of a Pair
77
What is PRADER-WILLY SYNDROME?
** NON-MENDELIAN Inheritance - Severe Hypotonia - Morbid Obesity - Cognitive Impairment - Hypogonadism - Infertility - Short Stature 0 DNA METHYLATION Testing to DETECT ABNORMAL Imprinting in PWCR on Chromosome 15
78
What is MULTIPLE FACTOR INHERITANCE?
- Group of NON-ALLEIC Genes that INFLUENCE a PHENOTYPIC Trait
79
What are EXAMPLES of MULTIPLE FACTOR INHERITANCE?
1) Neural Tube Defects = Birth DEFECTS of Brain / Spine / Spinal Cord E.g. SPINAL BIFIDA 2) Facial Cleft = OPENING / GAP in the Face 3) Congenital Cardiac Effects = DEFECT in Heart Structures of Heart / Great Vessels e.g. LONG QT SYNDROME

Med Genetics (3 decks)

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