Genetics and Prenatal Development

• The Beginning of Life • Conception




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The Human Cell • The human body is comprised of over 200 different kinds of cells which are the smallest selfcontained structures – Cell membrane: the outside layer of the cell – Cytoplasm: is comprised of specialized structures – Mitochondria: are the powerhouses that process nutrients and provide the cell’s energy – Endoplasmic reticulum. Golgi apparatus. and ribosomes: produce proteins – Neucleus: The inner part of the cell 8 .

The Nucleus • Chromosomes • Genes • Deoxyribonucleic acid (DNA) 9 .

Chromosomes • Rod shaped structures found in the center of the nucleus of every cell in the body. • Each sperm and each ovum contains 23 chromosomes. 10 . • The chromosomes contain the DNA and genes. • The fertilized egg (zygote) and all the body cells that develop from it (except the sperm cells and the ova) contain 46 chromosomes.

• The 23rd pair are the sex chromosomes: – XX in females – XY in males 11 .Chromosomes • 22 of the pairs are called autosomes and are numbered from largest to smallest. • The autosomes are not involved in determining sex.

Karyotype A photograph of a cell’s chromosomes arranged in pairs according to size 12 .

A Portion of a DNA Molecule 13 .

DNA Deoxyribonucleic Acid Nucleotides are the building blocks of DNA They contain 4 nitrogen-carbon-hydrogen basis that bond to form specific pairs: adenine can only pair with thymine cytosine can only pair with guanine The combination of base pairs cannot vary 14 .

The overall number of base pairs These variations account for differences between species.DNA What Can Vary: 1.The order in which the base pairs occur along the ladder 3. but with different numbers and arrangements 15 . All organisms use just these 4 bases.Which side of the ladder each base comes from 2.

9% the same as every other normal human being Only .DNA There are 3.1% accounts for the biological contribution to all our individual differences in physical and psychological characteristics 16 .12 billion base pairs in human DNA The DNA in each normal human being is about 99.

• SNPs (snips) are nucleotide variations that occur on average about every 1.250 base pairs DNA Single Nucleotide Polymorphisms (SNPs) 17 .• A large portion of the .1% individual difference takes the form of single nucleotide polymorphisms.

18 . The arrangement of these pairs along the DNA molecule determines which kind of proteins will be formed in the cell. • At each level of the spiral or rungs of the ladder are particular chemical pairs.DNA • They determine the nature of each cell in the body and how it will function.

19 . • The human genes (about 120.000) are referred to as the human genome. • A genome is the full set of genes in each cell of an organism.Genes • The basic unit of genetic information • They determine the nature and the function of the cell.

Proteins Proteins are molecules that perform an array of crucial functions in the human body: Enzymes: break down and altar biochemicals Hemoglobin: binds with oxygen allowing it to be transported to cells throughout the body Collagen: in bones and connective tissues Hormones: regulate physical growth 20 .

21 . • Transfer RNA (tRNA) initiates translation into amino acid.Genes and Protein Synthesis • A nuclear enzyme attaches to a segment of DNA causing nucleotide bonds to separate. • Ribosomes move along the RNA bonding amino acids into polypeptide chains which make proteins. • Transcription occurs resulting in messenger RNA (mRNA).

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1- Transcription: the transfer of information from an DNA molecule into an RNA (ribonucleic acid) molecule. 2- Messenger RNA (mRNA): a type of RNA synthesized from DNA; attaches to ribosomes to specify the sequence of amino acids that form proteins. 3- Translation: the transfer of information from an RNA molecule into a Polypeptide, in which language of the nucleic acids is translated into that of amino acids.

Celera Genomics The Human Genome Project
• In June 26, 2000, they both made an announcement that the “correct alphabetical order of the 3.12 billion letters” of the human genome had been mapped. • It will be many years before the incredibly complex functions of the genome in making and maintaining a living human being are fully understood.

Scientific Breakthroughs Greater insights into disease will be achieved Cures may be found Incurable diseases may be prevented There will be new insights into the evolutionary origins of humans 28 .

Controversial Issues Will it be ethical for parents to have their children screened prior to birth and decide not to have a child with a genome that is merely undesirable ? What about employers not hiring people with bad genomes and insurance companies refusing to insure them? 29 .

Cell Division and Reproduction When the cell is ready to divide and reproduce: the DNA staircase unwinds and the two long chains separate each chain attracts new biochemical material from the cell to synthesize a new and complementary chain Ultimately a new cell is formed 30 .

Terms • Gametes: Sex cells (ovum or sperm) • Diploid cells: Cells having 2 copies of each chromosome • Haploid gametes: Gametes having 1 copy of each chromosome 31 .

• A diploid cell (having 2 copies of each chromosome) undergoes a special form of cell division to create haploid gametes (having 1 copy of each chromosome). • An egg and a sperm fuse together to form a new diploid cell called zygote (a process called fertilization) 32 .Meiosis • Meiosis takes place in the testicles and ovaries.

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• Shortly afterwards. the cell divides in half.Mitosis • In the first step of mitosis. the cell briefly has 4 copies of each chromosome. 34 . so that instead of 2 copies. all chromosomes are copied. resulting in two cells each has a complete copy of the genetic information. • These cells grow larger and eventually undergo mitosis.

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• Mitosis: each cell divides and duplicates itself exactly • Meiosis: How reproductive cells (ova and sperm) are produced • Results in gametes. cells that contain only 23 chromosomes 37 .

000 ova a woman will ever have. males begin producing many thousands of sperm cells on an ongoing basis. It occurs in a two-stage process.• In Males Meiosis takes place in the testes and involves 2 rounds of division Results in 4 fertile sperm cells By puberty.. Results in one relatively big ovum and 2 small polar bodies that aren’t capable of being fertilized 38 . and they continue to do so through out their life span • In Females Meiosis begins in the ovaries before birth and partly completes all of the roughly 400.

Mutation A mutation is an alteration in the DNA that typically occurs during mitosis and meiosis. In most cases mutation is maladaptive and the new cell simply dies or repairs and eliminates the mutation A small number of of mutations are viable – the cell survives 39 .

mutation only affects the ensuing gametes and stops there. 40 . Unless a mutated gamete happens to be involved in producing offspring – in which case the mutation can be passed along to the next generation and beyond. it will then be passed along to all cells replicated. In meiotic cell division. if a viable mutation occurs early in development.Mutation In mitotic cell division.

Gregor Mendel (1800s) 41 .

Genotype The genetic makeup of a given individual Recessive Gene The gene pair that determines a trait in an individual only if the other member of that pair is also recessive Phenotype The traits that are expressed in the individual Dominant Gene One gene of a gene pair that will cause a particular trait to be expressed 42 .

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that affect the same trait The child might inherit an allele for brown eyes (B) from the father and an allele for blue eyes (b) from the mother The child’s genotype for eye color would be Bb. found on corresponding chromosomes.Alleles A pair of genes. The allele for blue eyes is recessive (b). What actual eye color will the child display? The allele for brown eyes is dominant (B). The dominant trait will be expressed as the phenotype 47 .

Homozygous Individual (Eye Color) Could be BB or bb Heterozygous Referring to the arrangement in which the two alleles for a simple dominantrecessive trait differ. or bB The chance for having blue eyes is 25% 48 . Heterozygous Individual (Eye Color) Could be Bb.Homozygous Referring to the arrangement in which the two alleles for a simple dominantrecessive trait are the same.

Incomplete Dominance Where people with a single recessive gene for a trait show some of the trait along with other normal manifestations. Example: Sickle-cell anemia 49 .

• They also have normal (dominant) red blood cells as well. 50 . • People with a single recessive gene for the trait have a marked percentage of abnormal “sickleshaped” red blood cells that interfere with oxygen transport throughout the body.Sickle-Cell Anemia • Occurs at its highest rate in individuals of black African ancestry.

swelling and infections under conditions of oxygen shortage.Sickle-Cell Anemia • The sickle cells are resistant to malarial infection. • It occurs when a person inherits both recessive alleles 51 . so those individuals with the trail would have survived long enough to have children in areas of the world where mosquito-borne malaria is highly prevalent. blood clotting. • Sickle-cell carriers experience pain in the joints.

the result is type AB blood type 52 . Example: If an individual gets an allele for each blood types A and B.Codominance Where neither the dominant nor recessive allele is dominant and the resulting phenotype is a blend of the two.

Polygenic Inheritance The overall system of interactions among genes and gene pairs More complex traits do not result from the alleles of a single gene pair. 53 . several gene pairs combine to create people with taller or shorter phenotype. but rather from a combination of many gene pairs In determining height.

Inherited Disorders • Sex-Linked Disorders – Genetic Disorders – Chromosomal Disorders • Autosomal Disorders – Genetic Disorders – Chromosomal Disorders 54 .

Sex-Linked Disorders • Involve the sex chromosome # 23 • Occur via dominant-recessive patterns • A recessive gene on the X chromosome is more likely to be expressed as the phenotype males because the Y chromosome has no allele that might contract the gene. 55 .

These interfere with normal blood clotting and occur at different loci (the position on a chromosome occupied by a particular gene) on the X chromosome. Occurs in 1 of 10 males 2.000 males.Hemophilia A and B Recessive disorders that affect 1 of 5. 56 .Color Blindness Genetic X-linked recessive disorder.Genetic Sex-Linked Disorders 1.

Chromosomal Sex-Linked Disorders 1. It is caused by an extra X chromosome 57 . 2.Klinefelter Syndrome (XXY. Results from a breakage of the tip of an X chromosome.500 females.Fragile X Syndrome Occurs in about 1 of 1.000 males. XXXXY) Occurs in about 1 of 1.200 males and 1 of 2. XXXY.

XYYY.Superfemale Syndrome (XXX. Women appear normal. XYYYY) Occurs in about 1 0f 1. 58 . XXXXX) Occurs in about 1 of 1. The men tend to be taller than average. XXXX. with a greater incidence of acne and minor skeletal abnormalities. but tend to score slightly below average in intelligence.000 males.Supermale Syndrome (XYY.000 females. 4.Chromosomal Sex-linked Disorders 3.

One of the X chromosomes is either missing or inactive. 59 .000 females.Chromosomal Sex-linked Disorders 5. and lack internal reproductive organs.Turner’s Syndrome (XO) Occurs in about 1 of 10. do not develop secondary sex characteristics. These women have immature female appearance.

• Can result from an extra chromosome or defective genes 60 .Autosomal Disorders • Disorders involving the other 22 pairs of chromosomes.

2.5000 people of white European ancestry.000 people.Cystic Fibrosis A recessive disorder that occurs in about 1 of 2.000 to 15.Angelman’s syndrome Occurs in about 1 of 10. It is determined by a set of mutated genes on chromosome 15. Related to a mutated gene on chromosome 17. 61 .Genetic Autosomnal Disorders 1. Characterized by excessive secretion of the mucus in the body.

It causes degeneration of neurons producing dementia.Genetic Autosomal Disorders 3. 62 . and random jerking movements. A dominant gene on chromosome 4 is responsible.000 people.Huntington Disease A dominant disorder that occurs in about 1 of 10.

It is determined by a set of mutated genes on chromosome 15.000 people. A defective gene on chromosome 12 is responsible 5.000 people.000 to 15.Genetic Autosomal Disorders 4.Prader Willi Syndrome A recessive disorder that occurs in 1 of 10. 63 .Phenylketonuria (PKU) A recessive disorder that occurs in about 1 of 10.

Sickle-Cell Anemia Occurs in about 1 of 12 U. blacks.000 people of European Ashkenazi Jewish ancestry.S. 64 .Genetic Autosomnal Disorders 6. The defective gene on chromosome 11 is responsible.Tay-sachs Disease A recessive disorder that occurs in about 1 of 5. 7. Defective gene on chromosome 15 is responsible.

Chromosomal Autosomal Disorders Down Syndrome Occurs in about 1 in 1. Pregnancies of women over age 35 accounts for 20% of Down syndrome birth 65 .000 live births. Risk increases with maternal age. An extra chromosome is attached to the 21st pair.

Genetics and Environment Sandra Scarr • Active genotype-environment effects • Passive genotype-environment effects • Evocative genotype-environment effects 66 .

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Stop and Discuss • • • • • • • Gametes Zygote Monozygotic twins Dizygotic twins Diploid cells Haploid gametes Dominant/recessive genes • • • • • • • • Chromosomes Genes DNA Meiosis Mitosis Allele Phenotype/genotype Homozygous/hetrozygous 70 .

• It includes analysis of parental medical records and family histories to construct a family pedigree.Genetic Counseling • Can help couples obtain valuable information about the parents’ genetic makeup . • It can help potential parents to evaluate genetic risk factors in childbearing and enable them to make intelligent decisions. 71 .

Family History Neonatal deaths Malformations Mental retardation Congenital anomalies (e.g. club feet) Diseases that run in families Inability to thrive Parental Conditions Genetic or chromosomal abnormality Infertility Mother/father’s age Stillbirths Ethnic background Exposure to toxic agents Cancer 72 .

Detecting Birth Defects Amniocentesis Chronic Villus Sampling Ultrasound Sonography Maternal Blood Test 73 .

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Germ-line Genetic Alterations Germ-line Genetic Intervention • 3.Genetic Enhancement 76 .Gene Therapy • 2.Genetic Engineering • Alteration of Human Genes • 1.

77 . • When the genes arrive at the site of the defective genes.Gene Therapy • Genetic alteration of somatic cells to treat disease.1. they produce chemicals that can treat the problem. • Researchers inject genes that are targeted to treat a particular disease in to a patient’s blood stream.

Parents could some day customize their children. • The result could be cloning. • Scientist might detect defective cells soon after conception.2-Germ-line Genetic Alteration • Can correct problems for unborn individuals and future generations. 78 . removing them from the mother and placing them in a test-tube culture. • Gene therapy could be employed to correct the defects in the cells. • It targets the genes in the reproductive cells – the egg and the sperm that combine the DNA to conceive a new human.

3-Genetic Enhancement • Non therapeutic genetic alteration • An attempt to enhance an already healthy genetic makeup by inserting a gene for improvement (e. height. intelligence.g. eye color) 79 .

What Do You Think? Genetic Engineering Germ-Line Genetic Alterations Gene Therapy Genetic enhancement 80 .

Cloning • Producing genetic replicas of the organism 81 .

Stop and Discuss • In the light of scriptural truth. how ethical are these issues? • 1-Amniocentesis • 2-Chronic villus sampling • 3-Gene therapy • 4-Germ-line genetic alteration • 5-Genetic enhancement 82 .

Stages of Prenatal Period 1.Germinal Stage (fertilization to 2 weeks) Blastocyst Cell Division Specialized Cells 83 .

2. sense organs. brain. respiratory system • 3-Mesoderm (in between both) Muscles. spinal cord • 2-Endoderm (inner layer) Digestive system. circulatory system 84 . bones. hair. teeth. blood. pancreas.Embryonic Stage (2 weeks to 8 weeks) • 1-Ectoderm (outer layer) Skin.

Fetal Stage (8 weeks to birth) Fetus Increases in size Proportions similar to adults 85 .3.

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Social Learning 87 .Environmental Influences 1.Classical Conditioning 3.Operant Conditioning 4.Habituation 2.

g.g. wars. marriage) • Normative History-Graded Influence Historical events (e. divorce. aging.Sociocultural Influences Paul Blates (87. entering school. depression) • Nonnormative Influences Individual environmental factors (e. unemployment) 88 .g. 88) • Normative Age-Graded Influence The biological and social changes (e.

Prenatal Care • • • • • • • Diet The father’s involvement Age of mother Illness of mother Drug use Alcohol Teratogens 89 .

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