GENETIC STUDIES IN HUMAN
It presents a number of challenges:
DISEASES (autosomal disorders)
DISEASES (sex chromosome disorders)
Disorders that affect women:
Proteins have important functions related to the body´s structural and physicological funcions and processes.
Enzymes are one of the examples.
PROTEIN SYNTHESIS
Ribosomes carry out this function.
However, DNA cannot leave the nucleus because it is too big. So the DNA copies its genetic message onto another molecule, RNA, which can leave the nucleus and take the info to the cytoplasm.
Types of RNA:
It presents a number of challenges:
- Only a few offspring by each couple.
- It takes a long time for an individual to produce descendants.
- For ethical reasons, humans cannot be used for genetic experiments.
- Medical records (by people with hereditary diseases which allow the studie of their family history).
- Many similarities have been stablished betueen this traits in animals and humans.
- The mapping of the human genome which has identified nd locted all the found in human DNA.
DISEASES (autosomal disorders)
- Down syndrome (trisomy 21) - 1,5 in 1000 births. Symptoms:
- intellectual disability
- flat head
- small chin, skin foldsat the edges of the eyes, round face, shorter limbs
- problems (eyesight and heart)
- Edwards syndrome (trisomy 18) - 1 in 6766 births. Clinical symptoms:
- intellectual disability
- kidney and heart malformations
- arrested growth and anormal development of limbs
- short neck and sternum
- Patau syndrome (trisomy 13) - 1 in 4600 births. Clinical symptoms:
- intellectual disability
- heart, genital, finger and brain malformations
- missing palate
- deformed feet
DISEASES (sex chromosome disorders)
Disorders that affect women:
- Triplex X syndrome (trisomy X or XXX syndrome)-clinicalsymptoms:
- mild learning disabilities
- delayed development of speech anel motor skills
- 1 in 1000 births
- Turner Syndrome (monosomy X) - 1 in 3300 births. Clinical symptoms:
- sterility and underdeveloped genitals
- short height
- XYY syndrome (XYY trisomy) - 1 in 2000 births. Clinical symptoms
- skeleton malfomations (very tall)
- mild to moderate learning disabilities and agressiveness
- Klinefelter syndrome (two X chromosomes and one Y chromosome). Clinical symptoms:
- small genitals and sterility in some cases
- mild learning disabilities
- 1,4 in 1000 births
Proteins have important functions related to the body´s structural and physicological funcions and processes.
Enzymes are one of the examples.
PROTEIN SYNTHESIS
Ribosomes carry out this function.
However, DNA cannot leave the nucleus because it is too big. So the DNA copies its genetic message onto another molecule, RNA, which can leave the nucleus and take the info to the cytoplasm.
Types of RNA:
- Messenger RNA: copy of the genetic message from the DNA.
- Ribosomal RNA: part of the ribosomes.
- Transfer RNA; transports the amino acids from the cytoplasm to the ribosomes.
- TRANSCRIPTION
- TRASLATION