Block 2 Week 1

Front 1

Proband

Back 1

"index case"
first affected family member who seeks medical attention for a genetic disorder

Front 2

Name the major categories of inherited disorders.

Back 2

Translocations
Single gene disorders
Autosomal dominant/recessive
Sex-linked Mitochondrial
Multifactorial disorders - A combination of genetic and environmental factors
necessary to have features of the disorder

Front 3

clinical dysmorphology

Back 3

study of structural defects, especially congenital malformations

Front 4

Personalized medicin

Back 4

•Options for disease management and prevention targeted to an individual’s genetic make-up.

Front 5

SNPs

Back 5

single nucleotide polymorphisms

Front 6

Distinguish between germ cells and somatic cells

Back 6

Germ cell is a cell that gives rise to gametes
Somatic cell –all the cells of the body except germ, gamete, & stem cells


Germ cells → Totipotent
Somatic cells → pluripotent or unipotent

Front 7

Describe the migration of primordial germ cells

Back 7

Primary ectoderm (of yolk sac)→ hindgut → urogenital ridge (primordial gonad aka gonadal ridge)

Front 8

Differentiate between primordial germ cells, germ cells and gametes.

Back 8

Primordial germ cells = germ cells that still have to reach the gonads, also
known as PGCs, divide repeatedly on their migratory route through the gut and into the developing gonads
Germ cell = any cell that will become a gamete
Gametes = Haploid cell that will fuse with another haploid cell in fertilization

Front 9

Distinguish totipotency and pluripotency

Back 9

Can differentiate into which type of cells:
Toti = all
Pluri = many

Front 10

SRY codes for?

Back 10

codes for testicular determining factor (leydig development),

SRY (Sex-determining region Y) is a sex-determining gene on the Y chromosome

Front 11

In male gonadal development which cell and produces which hormone for important structures

Back 11

sertoli cells --> anti-mullerian factor --> degenerates mullerian duct

leydig cells --> testosterone --> maintains wolfian duct --> male internal genitalia

DHT --> male external genitalia & prostate

Front 12

order and name of cells in spermatogenesis

Back 12

spermatogonium --> primary spermatocyte --> secondary spermatocyte --> spermatid --> spermatozoa

Front 13

Capacitation

Back 13

Capacitation of sperm alters their cell membrane and induces hyperactive swimming behavior
-destabilization of the acrosomal sperm head membrane allowing greater binding between sperm and oocyte

Front 14

Describe the series of events that occur in the egg within seconds, minutes, and hours of fertilization.

Back 14

•Within seconds of fertilization, Ca++ enters the egg and induces the cortical reaction.
•Within hours, the egg completes meiosis and sheds the second polar body.
•Within hours, the male and female pronuclei form and fuse.
•20 hrs. after fertilization, cell division commences.

Front 15

Parthenogenesis

Back 15

Growth and development of embryos occurring without fertilization.
An unfertilized egg initiates development.

Front 16

Describe the important developmental events that occur during the pre-implantation period.

Back 16

Cell divison
Transcription initiates
Compaction
Blastocoeal formation
Hatching

Front 17

When is implantation of the embryo?

Back 17

At 1 week
--> 7-10 days after ovulation,

Front 18

cystic tissue
-grape-like form in ovary/uterine tube/uterus

Back 18

Hydatiform mole --> overgrowth of trophoblast derived tissue


-complete --> only paternal genome (no fetus)
-Partial --> abnormal fetus (triploid)

Front 19

Why does the androgenetic diploid conceptus develop into a complete hydatidiform mole rather than a normal embryo/fetus/baby?

Back 19

it is the epigenetic states which are wrong and which cause disease.

Front 20

Cell-surface receptors – water soluble
-Name 4 catergories

Back 20

ion-channel-linked receptors
G-protein-linked receptors (GPCR)
Enzyme linked receptors- tyrosine/serine kinase activity → trigger
changes in growth (growth factor receptors)
Cytokine receptors – immune system- inflammatory response (TNF
receptor)

Front 21

Understand the importance of Epigenetics

Back 21

-Mono-allelic expression = imprinting
-Epigenetic state can be reset
-Some genes only from paternal or maternal genome (IGF2)

Front 22

Fast block and slow block?

Back 22

Fast block – membrane depolarization (prevents for short period sperm binding) not perfect

Calcium release causes cortical granule release

Slow Block – changes zona pellucida structure to prevent sperm entry

Front 23

genetic Dosage compensation

Back 23

silencing of one of the X chrom. in female
In germ cell, both x chrom. are unsilenced

Front 24

Uniparental disomy?

Back 24

1 chrom. pair from one parent

Leads to disorders due to epigenetics, you have over/under expression of epigentically controlled genes (IGF2) if get both chrom. from mom your too small and paternal is opposite

Front 25

source of miRNA and siRNA

Back 25

miRNA are endogenous, siRNA are mainly exogenous


miRNA usually use imperfect base pairing. siRNA usually do perfect
base pairing.

Both inhibit splicing, are phylogenetically conserved, and are effectors of chromatin.

Front 26

What does the wolffian duct develop into?

Back 26

In a male, it develops into a system of connected organs between the efferent ducts of the testis and the prostate, namely the
1) epididymis
2) vas deferens
3) seminal vesicle.