GiM

Question 1

Southern Blotting

Answer 1

Used for large amounts of DNA

Question 2

Northern Blotting

Answer 2

Used for RNA

Question 3

Western Blotting

Answer 3

Used for proteins

Question 4

PCR

Answer 4

Determines presence/absence (allele-specific) or product size

Question 5

QF-PCR

Answer 5

Amplifies repeat using fluorescent primers
Products separated by size of repeats
Used in amniocentesis+ chorionic villi biopsy

Question 6

qPCR

Answer 6

Confirms small copy number variations between pt and control

Question 7

Oligonucleotide Ligation Assay

Answer 7

Compares 2 alleles with slight differences

Distinguishes between a disease-causing mutation and a normal allele

Question 8

Sequencing

Answer 8

Sanger= type and place of mutation
Clonal= cheaper and faster, used for PCR product, mutated genes and exome panels

Question 9

FISH

Answer 9

Chromosomes labelled with dye

Identifies copy number imbalances, aneuploidy, cancer

Question 10

Multiplex Ligation-Dependent Probe Amplification

Answer 10

DNA based PCR

Identifies copy number variations in many loci (right number of DNA)

Question 11

Microarray CGH

Answer 11

Genome+control DNA compete
Does 8 pts at a time
Finds genetic imbalances
Database identifies pathology of imbalances
Needs good quality DNA

Question 12

Next Generation Sequencing

Answer 12

Similar to microarray CGH with molecular barcode

>1= gain

Question 13

Familial Inheritance

Answer 13

λ𝑠=𝑟𝑖𝑠𝑘 𝑜𝑓 2𝑛𝑑 𝑠𝑖𝑏𝑙𝑖𝑛𝑔/𝑟𝑖𝑠𝑘 𝑜𝑓 𝑔𝑒𝑛𝑒𝑟𝑎𝑙 𝑝𝑜𝑝𝑢𝑙𝑎𝑡𝑖𝑜𝑛

Question 14

Knudson’s Two Test Hypothesis

Answer 14

Need two mutations in cancer genes to make a tumour
Need 3 generations to say cancer is familiar
e.g. retinoblastoma, FAP, HNPCC, BRCA, Li-fraumeni (p53)

Question 15

Non-Mendelian

Answer 15

Additive genes e.g. BP, head circumference, weight
Influenced by environ
Diseases= spina bifida, asthma, cancer, DM

Question 16

Androgenesis

Answer 16

No egg in ovum but fertilised by sperm
Makes hydatiform mole (malignant trophoblastic tumour)
Well developed membranes

Question 17

Parthenogenesis

Answer 17

Two eggs in ovum+no sperm
Benign ovarian teratoma
Mostly epithelium (no muscle, membranes or placenta)

Question 18

Imprinting

Answer 18

Epigenetic
Maternal or paternal copy methylated (silencing it at CG island)
Hypomethylation= Russell-Silver syndrome

Question 19

Angelman

Answer 19

Deletion in chr 15 on MATERNAL gene

Dysmorphic, seizures, jerky, mental handicap

Question 20

Prader-Willi

Answer 20

Deletion in chr 15 on PATERNAL gene

Obese, mental handicap, hypergenitalism, hypotonia

Question 21

X-Inactivation

Answer 21

One X silenced in females
In males, X or Y silenced
Occurs in blastocyst

Question 22

Cytogenetics

Answer 22

Found via G-banding, FISH or qPCR

Issues= dosage, genes activated/inactivated, gene position changed, unmasking of recessive

Question 23

Aneuploidy

Answer 23

Increased maternal age increases risk as meiotic structure deteriorates

Question 24

Edward’s

Answer 24

Trisomy 18

Microcephaly, clenched hands, mental delay, congenital heart disease

Question 25

Patau

Answer 25

Trisomy 13 | Like edwards but also brain defects, cleft lip, polydactyly, abnormal genitalia

Question 26

Turner's

Answer 26

X No puberty Short, reduced IQ, aortic coarctation

Question 27

Klinefelter's

Answer 27

XXY | Testicular dysgenesis, tall, long limbs, low IQ

Question 28

Polyploidy

Answer 28

Gain of whole sets of chromosomes | Triploidy caused by digyny, diplospermy or dispermy

Question 29

Mosaicism

Answer 29

Caused by mitotic non-dysjunction | Errors at cleavage

Question 30

Reciprocal Translocations

Answer 30

Break+ exchange Only phenotype risk if a gene is broken Balanced

Question 31

Robertsonian Translocation

Answer 31

Whole arm fusion Acrocentric chromsomes (13,14,15, 21,22) No phenotype risk Balanced

Question 32

Inversion

Answer 32

2 breaks with rotation and rejoining Pericentric or paracentric Balanced

Question 33

Insertion

Answer 33

Onto another chromosome | Balanced

Question 34

Interstitial Deletion

Answer 34

In middle of chromosome

Question 35

Terminal Deletion

Answer 35

Off the end of a chromosome | Can form a ring

Question 36

Unbalanced Rearrangments

Answer 36

Copy number variation | Detected for FISH, MPLA, Microarray CGH, NGS, qPCR

Question 37

Genes

Answer 37

Have exons, introns and regulatory sequences | Repetitive DNA can be in satellites or interspersed

Question 38

Exon Skipping

Answer 38

Transcribing can skip an exon between two others

Question 39

Mutually Exclusive Exon Choice

Answer 39

Skipping a small exon if it is next to another small exon

Question 40

Ancestral Genes

Answer 40

Duplicated and dispersed amongst genome | Some non functional= pseudogenes

Question 41

William's

Answer 41

``` 7q11 deletion Hypercalcaemia, cocktail party speech, learning problems Heart problems (supravalvular aortic stenosis and peripheral pulmonary artery stenosis) ```

Question 42

Huntingdon's

Answer 42

36+ CAG repeats at HTT gene | More repeats in later generations

Question 43

Beckwith-Wiedermann

Answer 43

Caused by hypermethylation (imprinting) | Risk of Wilms tumour

Question 44

Achondroplasia

Answer 44

AD | Limb shortening

Question 45

2q11-2 Deletion

Answer 45

Variable symps | Most have heart defects

Question 46

Pharmacogenetics

Answer 46

Drug response altered by SNPs, gene amplification, translocations, deletions and insertions