Structure first described by Watson and Crick in 1953 The structure of DNA is illustrated by a right handed double helix, with about 10 nucleotide pairs per helical turn. Each spiral strand, composed of a sugar phosphate backbone and attached bases, is connected to a complementary strand by hydrogen bonding (non- covalent) between paired bases, adenine (A) with thymine (T) and guanine (G) with cytosine (C). Adenine and thymine are connected by two hydrogen bonds (non-covalent) while guanine and cytosine are connected by three.
Adrenoleukodystrophy (ALD) falls into a group of disorders known as leukodystrophies . This disease is diagnosed with a plasma test to determine the level of very long chain fatty acids, regardless of symptomatology. It is a very specialized test, so it is only performed in a few laboratories worldwide. These very long chain fatty acids accumulate, due to absence of peroxisomes in the liver, and damage the ability of the adrenal gland to convert cholesterol to steroid hormones. The characteristic of the disease is progressive cognitive and behavioral impairment. This impairment is due to the myelin degeneration that occurs within these patients' central nervous system. Without the myelin sheath, nerve fibers are damaged and cease to function properly.
XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosome. Affected individuals are usually very tall and thin. Many experience severe acne during adolescence. Additional symptoms may include antisocial or behavioral problems and learning disabilities. Intelligence is usually normal, although IQ, on average, is 10 to 15 points lower than siblings. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern.
Prescriptive and OTC Drugs: molecules small enough to enter the embryonic/fetal bloodstream e.g. asprin, anti-depressants, caffeine Illegal drugs: often consumed as a way of escaping reality Tobacco: first, second and even third hand, has effect on birth weight FAS, FAE =low birthweight, heart defects, mild cognitive impairments
Another name for palmer grasping reflex is darwinian
DEVELOPMENTAL PSYCHOLOGY Week 2: Foundations of Development DEVELOPMENTAL PSYCHOLOGY
Understanding of how we express physical characteristics
Understanding of how some diseases/defects are transmitted
e.g. PKU, an inability to metabolise amino acid phenylalanine, causing CNS damage in first year of life, is a recessive code, that strikes 1 / 8k births. Both parents must have recessive allele for child to get PKU
Referring to ecological systems theory, explain why parents of children with genetic disorders often experience increased stress. What factors, within and beyond the family, can help these parents support their children’s development?
Prenatal Diagnostic Methods Method Description Timing Amniocentesis Obtaining sample of uterine fluid by drawing fluid with syringe through abdominal wall 11-15weeks Chronic Villus sampling Removal of plug of tissue for analysis, entry via vagina 6-8weeks Fetoscopy Visual analysis of the fetus, possible to obtain blood sample 5-18weeks Ultrasound Beaming of high frequency sound waves at uterus Caution <5x Maternal blood analysis Testing for elevated level of alpha-fetoprotein By 2 nd month Preimplantation genetic diagnosis Associated with in vitro fertilisation and duplication of zygote
Conception / Germinal stage Conception occurs when a sperm joins with an egg When fertilisation has occurred, the newly formed zygote will make its way down to the womb By the end of a week, the blastocyst will implant in the uterine lining