Genomic imprinting and epigenetics

Question 1

What is androgenesis?

Answer 1

the development of an embryo that contains chromosomes from only the male parent

Question 2

What is parthenogenesis?

Answer 2

reproduction from an ovum without fertilisation, only reproduction from female parent
Parthenogenesis is most simply defined as reproduction without fertilization. More specifically, it occurs when a female gamete develops a new individual without being fertilized by a male gamete.

Question 3

What is a hydatiform mole?

Answer 3

It is androgenic so only paternal chromosomes
mostly homozygous 46XX
proliferation of abnormal trophoblastic tissue
can develop into malignant trophoblastic tumour
no remaining embryo

Question 4

what is a benign ovarian teratoma?

Answer 4

tumour in ovary that contains various tissue types e.g hair, bone, teeth, thyroid tissues
derived from oocytes which have completed first or both meiotic divisions
no skeletal muscle
no membranes
no placenta

Question 5

What is angel man syndrome?

Answer 5

deletion on maternal chromosome 15
smiling laughing appearance
wide mouth + drooling
microcephaly
absent speech
seizure disorder
ataxic jerky movement

Question 6

What is Prader-willis syndrome?

Answer 6

Deletion on paternal chromosome 15
Hypotonia
hyperphagia - uncontrolled appetite
mental handicap
small hands and feet
male hypogenitalism

Question 7

What are the male reproductive best interest?

Answer 7

promote foetal growth
High birth weight
drive foetal growth

Question 8

what are the female reproductive best interest?

Answer 8

Restrain foetal growth due to maintaining own survival

maintain own survival

Question 9

Beckwieth-Weidemann syndrome?

Answer 9

paternal interests overcome maternal interests
promote foetal growth
high birth weight
organmegaly
hypoglycaemia
tumour risk
sporadic occurence

Question 10

Features of huntingtons?

Answer 10

progressive neurodegenerative disorder
disorder of mood, movements, memory 
uncontrolled movement
bradykinaesia
dysarthria
euphoria
anxiety
aggression
psychotic symptoms
loss of executive functioning
memory loss

Question 11

What are the genetics of Huntingtons?

Answer 11

autosomal dominant - complete penetrance
HTT gene on chromosome 4 mutated - results in a run of CAG trinucleotide repeats >40
anticipation disorder - onset occurs at earlier age in next generation
only symptomatic treatment