Wk 3: Conception, fetal dev., genes, fertility, adoption, surrogacy Flashcards
chromosomes
- You have 46 total
- 23 pairs
- sex chromosome is the 23rd one
Haploid vs diploid chromosomes
- Haploid = Only sex chromosomes which are called gametes. They have a single set of unpaired chromosomes.
- Diploid = The presence of two complete sets of chromosomes in an organisms cells. 23 pairs.
Karyotype
- A picture of all a person’s chromosomes
- Homologous = same genes arranged in the same order
Homologous pairs
- having the same position, value, or structure
- Chromosomes come in homologous pairs
- Matching genes = one in each parent
- Gene for eye color for example
DNA - deoxyribonucleic acid
- Carries genetic info
- Genes = rungs of the ladder.
- Give physical characteristics
- A chromosome has 100 to 1000s of genes
- More than one gene may be responsible for a trait. ie 3 genes for eye color.
Traits
- Gene is a segment of dna that determines a trait
- Traits are determined by the genes on the chromosomes
The work of chromosomes
- chromosome 14: Premature birth, slow growth before and after birth, short stature, small hands and feet, early onset of puberty
- c. 21: intellectual disablity, delayed dev., characteristic facial features such as down syndrome
- c. 22: Workings of the immune system, CHD, schizophrenia, cancers including leukemia
Allele
- Every trait has at least two alleles
- ## They are the different possibilities for a given trait
Dominant and recessive genes
- Dominant: prevents recessive from showing
- Recessive: a gene does not show even thought it is present. Must have two recessives to express gene
Homo vs heterozygous
- Homo: RR or rr (both d or r)
- Hetero: Rr (combo of D and r)
- Refers to alleles in this case
Chrome. mutations
- Less common than gene mutations…gene: CF, sickle anemia, celft palate.
- Chromosome mutations are more drastic: down syndrome, turner syndrome
- Caused by failure of homologous chromes. to separate during meiosis
- Pairs no longer look the same
Terms of chromosome mutation
- Deletion
- Duplication
- Inversion
- Translocation
- Miscarriage may happen in these cases
Examples: down syndrome
- Trisomy 21. 47 chromosomes
- extra chromosome pair at #21.
- Flattened nose and face
- Spacing of the toes, simean crease that goes all along the hand
Mosaicism
- a condition in which cells within the same person have a different genetic makeup
- can affect any type of cell, including:
- Blood cells
- egg and sperm cells
- Skin cells - caused by an error in mitosis very early in dev. of fetus. Ex of mosaicism: turners, or down.
X-linked recessive. Sex linked to mother.
- Means females carry the disorder
- females have a 50% chance of being a carrier
- Males have 50% chance of exhibiting the disorder when born to a carrier mother
- Besides hemophilia A & B, color blindness, and “fragile X syndrome”, are examples of this disorder
Autosomal recessive pattern
- The gene in question is located on one of the numbered, or non-sex, chromosomes
- Diseases only expressed when 2 copies of the recessive allele are inherited
- Subsequent pregnancies carry same risk percentage as the first one:
- transmission not related to gender
- Marrying blood relative increases risk of this disease: 25% chance child will have it, 50% child is carrier, 25% chance child is neither carrier or diseased
Autosomnal Dominant
- Only one abnormal gene from one paren tis necessary for disease/disorder manifestation
- The affected parent has 50% chance of having a child with the disorder
- Occurrence not affected by gender and occurs in each generation
- Normal or unaffected individual does not transfer/transmit disorder to offspring
Examples of autosomnal dominant diseases
- Huntington disease
- Polycystic kidney disease
- Polydactyly
- Achondroplasia
- Neurofibromatosis
Genetic counseling is:
- Estimation of risk:
1. occurrence of risk:- parents are known to be at risk for producing a child with disease
- Recurrence risk:
- once they have produced a child with disease
- Interpretation of risks
- parents are known to be at risk for producing a child with disease
Punnet square
- One parent on top
- one on the side
- Each box is 25%
The four symbols of a pedigree
- Circle = female
- Square = male
- Triangle = Stillborn
- Diamond = Miscarriage
Gamete has how many total chromosomes ?
- 23 total chromosomes. Haploid!
- So each sperm and egg has 23 chromosomes !
Fetal growth and development
- after sperm enters egg, within 38 hours, cell division begins
- by the 10th day the embryo embeds in the uterus
Know
- zygote is the name of the fertilized egg
- Morula: 16 cells.
- Blastocyst: After morula, by 5th or 6th day. bunch o’ cells.
- Embryo until 8th week
- then fetus till birth
By which day does the embryo implant in the uterus
By the 10th day
Intervillus space in placenta
- where oxygen is absorbed, and baby’s CO2 is offput (gas exchange)
- Their blood does not mix, but chemicals can pass
- Spiral arteries involved
Fetal growth chart
- Heart: wk 6 - 8
- Upper limbs: 6 - 8
- Eyes: wk 8 and past
- First 7 - 8 wks: the entire structure of the fetus
- 12 - 16 wks and after: its formed, and then they grow and mature.
landmark devs. 6, 7, 8th wks
- 6 wks: heart beat
- 7 wks: essential organs start to form
- 8 wks: Size of a grape
landmark devs. wk 12, 16, 20:
- 12 wks: 2 1/2 inches long
- 16 wks: 4 & half inches long
- 20 wks: 6 inches long, yawns makes faces
landmark dev. wk 24
- 9 inches long
- Hiccups
- sucks thumb or toe
Infertility
- Defintion: for women up to age 35, failure to get pregnant within one year of trying
- After age 35, failure to get pregnant after 6 months of trying
- Infertility does not include miscarrying or being unable to carry a baby to childbirth
The most common overall cause of female fertility is the…
- ….failure to ovulate, which occurs in 40% of women with fertility issues
- Not ovulating may be a cause of:
- Primary ovarian insufficiency
- Polycystic ovary syndrome