Genetics and Prenatal Development Flashcards

1
Q

The human genome

A

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.

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2
Q

Genotype

A

The totality of an individual’s genes. Not all are expressed.

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3
Q

Phenotype

A

An individual’s actual characteristics are derived from genotype.

The environment is important for expressing genes from genotype to phenotype.

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4
Q

Dominant recessive inheritance

A

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.

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5
Q

Allele

A

An allele is one of two or more versions of a gene that are located at the same position on a chromosome.

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6
Q

Incomplete dominance

A

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.

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7
Q

Polygenic inheritance

A

Expression of phenotypic characteristics is due to the interaction of multiple genes rather than one.

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8
Q

Traits with single gene dominant recessive inheritance

A

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

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9
Q

Sex chromosomes

A

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.

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10
Q

X linked inheritance

A

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

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11
Q

Behaviour genetics

A

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.

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12
Q

monozygotic (MZ) twins

A

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.

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13
Q

dizygotic (DZ) twins

A

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.

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14
Q

Heritability

A

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.

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15
Q

Concordance rate

A

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.

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16
Q

Epigenesis

A

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.

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17
Q

Reaction range

A

Range of possible developmental paths established by genes. Environment determines where development takes place in that range.

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18
Q

theory of genotype → environment effects

A

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.

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19
Q

Passive genotype → environment effects

A

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.

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20
Q

Evocative genotype → environment effects

A

When a person’s inherited characteristics evoke responses from others in their environment. Stable through life.

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21
Q

Active genotype → environment effects

A

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.

22
Q

Gametes

A

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).

23
Q

Meiosis

A

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.

24
Q

Mitosis

A

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.

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Cytoplasm
Fluid that provides nutrients for the ova for first two weeks of fertilisation, until reaches uterus to begin drawing nutrients from mother.
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Crossing over
After the chromosomes first split and replicate but before the cell divides, pieces of genetic material are exchanged between the alleles in each pair. Crossing over mixes the combinations of genes in the chromosomes, so that genetic material that originated from the mother and father (your grandparents) is rearranged in a virtually infinite number of ways.
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Stages of meiosis
Parent cell Lining up and crossing over Chromosome replication Cell division Cell division 2
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Follicle
The follicle consists of the ovum plus other cells that surround it and provide nutrients. About 14 days into a woman’s cycle, the mature follicle bursts and ovulation takes place as the ovum is released into the fallopian tube. The ovum is 2,000 times larger than a sperm because it contains so much cytoplasm. It is only during the first 24 hours after the ovum enters the fallopian tube that fertilisation can occur. It takes sperm from a few hours to a whole day to travel up the fallopian tubes, so fertilisation is most likely to take place if intercourse occurs in the 6 days leading up to and including the day of ovulation. Sperm can live up to 5 days after entering the woman’s body, but most do not last more than 2 days and pregnancy is much more likely on the day of ovulation.
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Zygote
The new cell formed from the union of the sperm and ova.
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The process of fertilisation and conception
About 14 days into a woman’s menstrual cycle, an ovum is released into the fallopian tube. When fertilisation occurs, the 23 chromosomes from the ovum pair up with the 23 chromosomes from the sperm and a new cell, the zygote, is formed from the two gametes. The zygote’s 46 paired chromosomes constitute the new organism’s unique genotype, set once and for all at the moment of conception.
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Milestones of prenatal development
First trimester 1-2 weeks: Germinal period Zygote divides and forms blastocyst, which implants in uterus and begins forming amnion, placenta, and umbilical cord. 3-4 weeks: Embryonic period Three layers form: ectoderm, mesoderm, and endoderm. Neural tube develops and produces neurons. Heart begins beating; ribs, muscles and digestive tract form. 5-8 weeks: Arms and legs develop, then fingers and toes. Placenta and umbilical cord function; liver produces blood cells; embryo responds to touch. Heart develops separate chambers. 9-12 weeks: Fetal period unitl birth Genitals form and release sex hormones; fingernails, toenails, and taste buds develop. Heartbeat audible with stethoscope. Second trimester 13-24 weeks: Mother feels movement; fetus kicks, turns, hiccups, sucks thumb, breathes amniotic fluid, responds to sounds, especially music and familiar voices; vernix and lanugo develop on skin for protection. Third trimester 25-38 weeks: Lungs develop fully; over two-thirds of birth weight is gained; brain development accelerates; sleep-wake cycle resembles newborn's.
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Blastocyst
Ball of about 100 cells formed by 1 week after conception. The blastocyst is divided into two layers. The outer layer of cells, called the trophoblast, will form the structures that provide protection and nourishment. The inner layer of cells, the embryonic disk, will become the embryo of the new organism. 50% don't implant successfully.
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Amnion
Fluid-filled membrane that surrounds and protects the developing organism.
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Placenta
It also acts as a gatekeeper, protecting the developing organism from bacteria and wastes in the mother’s blood, and it produces hormones that maintain the blood in the uterine lining and cause the mother’s breasts to produce milk.
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Implantation
Implantation is the outcome of the germinal period if all goes well. However, it is estimated that over half of blastocysts never implant successfully, usually due to chromosomal problems that have caused cell division to slow down or stop. If implantation fails, the blastocyst will be eliminated from the woman’s body along with the bloody uterine lining during her next menstrual period.
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Gestation
In prenatal development, elapsed time since conception.
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Three layers of embryonic disc
The outer layer, the ectoderm, will become the skin, hair, nails, sensory organs and nervous system. The middle layer, the mesoderm, will become the muscles, bones, reproductive system and circulatory system. The inner layer, the endoderm, will become the digestive system and the respiratory system. The nervous system develops first and fastest. Once formed, the neural tube begins producing neurons in immense quantities, over 250,000 per minute.
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Premature birth
A full-term fetus is defined as 38 weeks or more gestation. Babies born before 22 weeks rarely survive, even with the most advanced technological assistance. More than 60% of preterm births occur in Africa and south Asia. In low-income countries, 50% of babies born at 32 weeks survive, but in high-income countries, almost all of them survive. The lungs are the last major organ to become viable, and even a baby born in the seventh or early eighth month may need a respirator to breathe properly. During the last trimester the typical fetus gains over 2200 grams, and this additional weight helps it sustain life. Babies born weighing less than 2500 grams are at risk for a wide range of problems. Women should typically gain 11–16 kilograms during pregnancy, and women who gain less than 9 kilograms are at risk of having babies who are preterm and low birth weight.
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Benefits of massage for mother and fetus
Benefits to the mother include lower likelihood of back pain, less swelling of the joints and better sleep. Babies whose mothers received prenatal massage score higher on scales of their physical and social functioning in the early weeks of life.
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Essentials of prenatal care before pregnancy
Have a medical examination to ensure there are no diseases that may affect prenatal development. If not fully vaccinated, follow medical advice regarding vaccinations for diseases, such as rubella, that can damage prenatal development, or COVID-19, that can potentially cause complications. Avoid tobacco, alcohol and other drugs, which may make it more difficult to become pregnant and are damaging to prenatal development.
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Essentials of prenatal care during pregnancy
Diet. Maintain a balanced diet, including protein, grains, fruit and vegetables. Avoid excessive fats, sugars and caffeine, and obtain sufficient iron and iodine. Gain 11–16 kilograms in total; avoid dieting as well as excessive weight gain. Women should also drink more fluids during pregnancy than they normally do, as the fetus needs fluids for healthy development and a pregnant woman’s body also requires more. Exercise. Engage in mild to moderate exercise regularly, including aerobic exercise. Aerobic exercise, such as walking, jogging or swimming, is related to decreased back pain, lower risk of gestational diabetes, better sleep and more energy. However, it is important to avoid strenuous exercise and high-risk sports, such as long-distance running, contact sports, downhill skiing, water skiing and horse riding. Teratogens. Avoid tobacco, alcohol and other drugs. Avoid exposure to X-rays, hazardous chemicals and infectious diseases.
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Teratogens
Behaviours, environments and bodily conditions that could be harmful to the developing organism. The embryonic period, especially, is a critical period for prenatal development. Malnutrition most common worldwide. Alcohol and tobacco in developed countries. Infectious disease also in developing countries.
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Critical periods
Organs such as the nervous system develop from the second week. Embryonic most critical. The heart is formed between weeks 3.5 and 6.5. Arms and legs between 4.5 and 7. Eyes from 4.5. Teeth before 7 and 9. External genitalia from 7. Ears from 4.5 and between 9 and 12.
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Malnutrition in China
In the 1980s, China had the highest incidence in the world of two serious prenatal disorders: anencephaly, in which parts of the brain are missing or malformed; and spina bifida, which is an extreme distortion in the shape of the spinal column. It was discovered that in both of these disorders the main cause is a deficiency of folic acid.
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Iron and iodine in pregnancy
In 2009, the Australia New Zealand Food Standards Code legislated folic acid and iodine must be added to bread in Australia. Neural tube defects fell 14%, and among Indigenous mothers the drop was 74%. Iodine levels increased 52%. Iron-rich foods such as beef, duck, potatoes (including skin), spinach and dried fruits are important for building the blood supply of mother and fetus. The WHO estimates that nearly one-half of women worldwide are deficient in iron, placing them at risk for having preterm and low-birth-weight babies. Iodine is also crucial because low-iodine intake during pregnancy increases the risks of miscarriage, stillbirth and abnormalities in fetal brain development. In most developed countries salt has been iodised since the 1920s.
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Malaria and pregnancy
In sub-Saharan Africa, malaria infection in pregnancy accounts for 20% of fetal deaths. Malaria inflections during the second trimester are more likely to affect the growth of the fetus, which can result in low birth weight, stillbirth and risk of infant mortality.
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Covid 19 and pregnancy
There is evidence that mothers are at increased risk for preterm delivery, caesarean delivery, a serious condition called preeclampsia and haemorrhaging after birth. Newborns were also at higher risk of distress during labour and being admitted to intensive care, and had lower birth weights. Current medical research indicates that vaccines are safe for pregnant women and had no effect on delivery or newborn complications.
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Alcohol and pregnancy
In developed countries, the teratogen that causes the most widespread damage to prenatal development is alcohol. Analysis of the Growing Up in New Zealand study found that 22.5% of pregnant women had some level of alcohol in the first trimester and 13.4% reported drinking after that. In 2013, 53% of pregnant Australian women abstained from drinking; many who drank did so before they knew they were pregnant, but 26% continued to consume alcohol when they knew they were pregnant.
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fetal alcohol spectrum disorder (FASD)
Includes facial deformities, heart problems, misshapen limbs and a variety of cognitive problems such as intellectual disability and attention and memory deficits. In Australia, the incidence of FASD is estimated to be as much as 39 times higher for Indigenous children, but this incidence is still far lower than the rates seen among indigenous populations from other countries.
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Tobacco and pregnancy
Women who smoke during pregnancy are at higher risk for miscarriage and premature birth, and smoking is the leading cause of low birth weight in developed countries. Maternal smoking raises the risks of health problems in infants, such as impaired heart functioning, difficulty breathing and even death. In Australia and New Zealand, respectively 10% and 13% of pregnant women reported smoking during pregnancy. Prenatal exposure to smoking predicts problems in childhood and adolescence, including poorer language skills, problems with attention and memory, and behaviour problems. Second-hand smoke from others’ smoking leads to higher risks of low birth weight and childhood cancer.
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Other teratogens
Maternal use of drugs such as cocaine, heroin and marijuana causes physical, cognitive and behavioural problems in infants. Certain prescription drugs can also cause harm. Even non-prescription drugs such as cold medicines can be damaging to prenatal development. Pregnant women are advised to avoid work that involves exposure to teratogens such as X-rays, hazardous chemicals or infectious diseases. Toxins in water, food or air.