Genetics and Prenatal Development Flashcards
The human genome
In the nucleus of every cell (except reproductive) contain 46 chromosomes in 23 pairs, with one chromosome in each pair inherited from the mother and the other inherited from the father.
Chromosomes are made of molecules known as DNA (deoxyribonucleic acid).
DNA is made of segments called genes, which are made of pairs of chemicals called nucleotides, and these sequences comprise instructions for the functioning and replication of the cells.
There are about 23,000 genes in our 46 chromosomes, the total human genome, with altogether about 3 billion nucleotide pairs.
Genotype
The totality of an individual’s genes. Not all are expressed.
Phenotype
An individual’s actual characteristics are derived from genotype.
The environment is important for expressing genes from genotype to phenotype.
Dominant recessive inheritance
The pattern of inheritance in which a pair of chromosomes contains one dominant and one recessive gene, but only the dominant gene is expressed in the phenotype.
Allele
An allele is one of two or more versions of a gene that are located at the same position on a chromosome.
Incomplete dominance
When the phenotype is influenced primarily by the dominant gene, but also to some extent by the recessive gene.
One example is the sickle-cell trait that is common among Black Africans and their descendants. sickle-cell anaemia affects 1 in 500 Africans. Only one gene results in resistance to malaria, while both results in high risk of sickle cell anaemia. No cell results in vulnerability to malaria.
Polygenic inheritance
Expression of phenotypic characteristics is due to the interaction of multiple genes rather than one.
Traits with single gene dominant recessive inheritance
Curly > Straight hair
Dark > Blonde hair
Facial > no dimples
Normal hearing > Deafness (some forms)
Normal vision > Nearsighted vision
Freckles > No freckles
Unattached ear lobe > Attached ear lobe
Can roll tongue in U shape > Cannot
Sex chromosomes
Determines if an organism is male (XY) or female (XX).
All eggs carry X chromosomes, sperm may carry X or Y. Y is smaller holding a third of the genetic material.
X linked inheritance
A recessive characteristic is expressed in males because there is no second X chromosome to block it.
An example of this is haemophilia, a disorder in which the blood does not clot properly and the person may bleed to death from even a minor injury. A woman carrying it will pass it on but only her son will have the condition because the daughter will inherit another X chromosome form the father to block it. Also includes other genetic conditions such as learning and intellectual disabilities.
Humans naturally give birth to about 105 boys per 100 girls. Evidently, this is nature’s way of compensating for the greater genetic vulnerability of males
Behaviour genetics
Field in the study of human development that aims to identify the extent to which genes influence behaviour, primarily by comparing people who share different amounts of their genes.
monozygotic (MZ) twins
Identical twins. Developed from a single ova and sperm. Have the same genotype.
MZ twins are less common than DZ twins, occurring about 1 in every 285 births. They take place at the same frequency all around the world and are not predicted by age, family history or nutrition.
dizygotic (DZ) twins
Fraternal twins. Developed from two ova being released and both being fertilised by different sperm. Have 40–60% of their genes in common.
This takes place overall about once in every 60 births, although there are substantial ethnic variations, ranging from 1 in every 25 births in Nigeria to 1 in every 700 births in Japan.
Heritability
An estimate of the extent to which genes are responsible for the differences among people within a specific population. The value of the heritability estimate ranges from 0 to 1.00. Measure phenotype, not genotype.
Intelligence about 5.0. Personality from 4.0 to 5.0.
Concordance rate
This is a percentage that indicates the degree of similarity in phenotype among pairs of family members.
Concordance rates for schizophrenia are 50% for MZ twins and 18% for DZ twins. This means genetics is more at play.
Epigenesis
Development results from the bidirectional interactions between genotype and environment.
Girls normally begin menstruating around age 11–16, towards the lower end of this range under healthy conditions and towards the higher end when nutrition is insufficient or the girl is suffering from medical problems.
Reaction range
Range of possible developmental paths established by genes. Environment determines where development takes place in that range.
theory of genotype → environment effects
According to this theory, both genotype and environment make essential contributions to human development. However, the relative strengths of genetics and the environment are difficult to unravel because our genes actually influence the kind of environment we experience. That is the reason for the arrow in the term genotype → environment effects. Based on our genotypes, we create our own environments, to a considerable extent.
Passive genotype → environment effects
In a biological family, parents provide both genes and environment for their children. Difficult to know what the cause is. Stronger as a child and less as an adult.
Evocative genotype → environment effects
When a person’s inherited characteristics evoke responses from others in their environment. Stable through life.
Active genotype → environment effects
When people seek out environments that correspond to their genotypic characteristics, a process called niche picking. Weaker as a child and stronger as an adult.
Gametes
the sperm in the male testes and the egg or ovum (plural, ova) in the female.
Females are born with about 1 million ova, but this number diminishes to about 40,000 by the time they reach puberty, and about 400 of these will mature during a woman’s childbearing years. Most women cease ovulating sometime in their 40s or 50s, but men produce sperm throughout their adult lives (although the quantity and quality of the sperm may decline with age).
Meiosis
The process by which gametes are generated through seperation and duplication of chromosome pairs, ending in four new gametes from the original cell, each with half of the number of chromosomes of the original cell. A variation of mitosis.
Happens for sperm before release. Happens for ova after fertilisation. Creates four viable sperm but only one ova. Remaining ova are the three polar bodies.
Mitosis
The normal process of cell replication in which the chromosomes duplicate themselves and the cell divides to become two cells, each containing the same number of chromosomes as the original cell.