chapter 11 human heredity. 11-1 “it runs in the family” many characteristics of human children...
TRANSCRIPT
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Chapter 11
Human Heredity
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11-1 “It runs in the family”
• Many characteristics of human children are genetically determined
• Many human traits are inherited by the action of dominant and recessive allele genes, although other traits are determined through more complicated gene interactions
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The Human Organism – A Review
• Diploid cell – 2 sets of homologous chromosomes– 46 chromosomes
– 23 pairs
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• 6 billion nucleotide pairs• 3,000 letters to a page – over 1
million pages
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• Gametes – sperm or egg– Contain a single copy of a gene
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• Zygote – fertilized egg – 46 chromosomes– Formed when sperm and egg unite
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Human Traits
• Phenotype is only partly determined by the genotype
• Some traits are strongly influenced by environmental factors (non-genetic)
• Examples – exercise and nutrition
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• It is important to consider the influence of the environment on the expression of some genes, it must be understood that environmental effects on gene expression are not inherited;
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• Genes that are denied a proper environment in which to reach full expression in one generation can, in a proper environment, achieve full potential in a later generation (page 229)
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11-2 The Inheritance of Human Traits
• more than 3,000 human genes have been described
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Human Blood Groups
• Multiple alleles – genes with more than two forms
• Example – ABO and Rh blood groups
* Remember – an organism can have two alleles only!
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• Blood Type – determined by the presence or absence of certain things in the blood
• RBC (Red blood cell) – can carry two different antigens
• Antigens – molecules that can be recognized by the immune system
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Genotypes and Phenotypes
• ii
• IAIA or IAi
• IBIB or IBi
• IAIB
• Type O
• Type A
• Type B
• Type AB
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Rh Blood Groups
• Rh antigen also on RBC
• Rh+ - have antigen (Dominant)
• Rh_ - no antigen (Recessive)
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Huntington’s Disease
• Caused by a single Dominant allele• Appears in 30’s or 40’s• Progressive loss of muscle control
and mental function death• Gene on chromosome 4
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Sickle Cell Anemia
• Caused by a change in one of the polypeptides found in hemoglobin (carries oxygen in RBC)
• One nucleotide difference• Codominant inheritance pattern –
HAHS
• HA - normal allele
• HS – Sickle Cell allele
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• Sickle Cell Anemia – common in people of African ancestry and from tropical regions
• Carriers (heterozygous) of Sickle Cell trait (HAHS) resistant to malaria
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Polygenic Traits
• Human traits that are controlled by a number of genes
• Example – Height, Body weight, skin color
• Phenotypes seen in a range
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Example – Skin Color
• 4 genes – some may have multiple alleles
• Color is determined by the combination of genes
• Melanin – dark colored pigment• The darker you are the more genes
you have that code for the production of melanin
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11-3 Sex-Linked Inheritance
• Genes on an X chromosome are inherited in a sex linked pattern
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Nondisjunction
• Failure of chromosomes to separate properly during one of the stages of meiosis
• Turners Syndrome – 45X – female• Klinefelters Syndrome – 47XXY -
male
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Babies are not born without an X1. X is essential for survival
2. Sex is determined by the presence or absence of Y
3. Y switches on a male pattern of growth
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Sex-Linked Genetic Disorders
• Gene for the trait is on the X or Y• X has many genes – Y has few• Defects easy to spot – appear more in
males
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Colorblindness
• Recessive X linked disorder• Cannot distinguish colors
• Dominant Gene – XC
• Recessive Gene - Xc
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Carrier
• A heterozygous female – has the gene but does not express it – can pass it on to her children
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Hemophilia
• Recessive X linked disorder• Blood does not clot
• XH – good gene
• Xh – hemophilia gene
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Muscular Dystrophy
• Results in the progressive wasting away of muscle
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Sex Influenced Traits
• A trait that is caused by a gene whose expression differs in males and females
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Baldness
• A sex influenced trait• Single gene – two alleles
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Genotype Male Female
BB Normal Normal
bb Bald Bald
Bb Bald Normal
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11-4 Diagnosis of Genetic Disorders
• Down’s Syndrome – Trisomy 21– Extra copy of the 21st chromosome
• Can be detected by microscopic examinations of chromosomes
• karyotype
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Parental Diagnosis
• Amniocentesis – removes fluid from the sac around the baby– The fluid can be used to grow cells and
make a karyotype
• Chorionic Villus Biopsy – cells are removed from the embryo– Faster than amnio.
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• CVB and Amnio make it possible to detect chromosomal abnormalities
• Test for: biochemical abnormalities» Presence of certain DNA
sequences
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• We can detect over 100 disorders
• Knowledge leads to choices and decisions
• Ethical Considerations
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Genetic Engineering
• Biologists can engineer a set of genetic changes directly into an organisms DNA
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Restriction Enzymes
• Proteins that cut genes at specific DNA sequences
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Engineering New Organisms
• Transgenic – organisms that contain foreign genes
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Transgenic Bacteria
• put genes in bacteria and they make things humans need
• Ex. Growth hormone
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• Curing genetic diseases – 5% of babies in USA born with one
• Decoding the human genome (determine the nucleotide sequence of about 3 billion nucleotides or about100,000 genes and to map their location on every chromosome)
• Personal Id• Diagnosis of disease – 4,000 human
genetic disorders
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Genetic Counseling
• Karyotype• DNA Fingerprint• CVB• Amniocentesis• Family History
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Pedigrees
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• Huntington's disease pedigree
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• Which type of inheritance pattern is shown in the above pedigree?
• What is individual II-4’s genotype?• How many different genotypes are
possible for individual III-2?
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