studying humans requires alternative methods. human geneticists use. human are 4.3.12 – deduce...
TRANSCRIPT
![Page 1: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/1.jpg)
![Page 2: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/2.jpg)
Studying humans requires alternative methods.
Human geneticists use .
Human are
4.3.12 – Deduce the genotypes and phenotypes of individuals in pedigree charts.
![Page 3: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/3.jpg)
Label:
![Page 4: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/4.jpg)
4.3.12 – Deduce the genotypes and phenotypes of individuals in pedigree charts.
![Page 5: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/5.jpg)
Human Pedigree tracing a dominant trait
![Page 6: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/6.jpg)
Human Pedigree tracing a recessive trait
![Page 7: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/7.jpg)
Human Pedigree tracing a sex-linked trait
![Page 8: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/8.jpg)
Human genetic disorders result from .
1. Gene Mutations –
Hundreds of human genetic disorders involve defects caused by mutations of
Disorders caused by mutated alleles: PKU, cystic fibrosis, sickle cell anemia, Tay-Sachs disease
4.1.3 – Define gene mutation.4.1.4 – Explain the consequence of a base substitution mutation in relation the process of transcription and translation, using the example of sickle-cell anemia.
![Page 9: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/9.jpg)
Sickle Cell Anemia is the result of a gene mutation called a
Hemoglobin is found in your .
Each hemoglobin molecule is made up of (-
hemoglobin) and (-hemoglobin)
The mutation producing sickle cell hemoglobin is in the gene for -hemoglobin.
4.1.4 – Explain the consequence of a base substitution mutation in relation the process of transcription and translation, using the example of sickle-cell anemia.
![Page 10: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/10.jpg)
![Page 11: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/11.jpg)
![Page 12: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/12.jpg)
2. Chromosome mutations –
• Results from nondisjunction –
4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21).
![Page 13: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/13.jpg)
Extra chromosomes Missing chromosomes
![Page 14: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/14.jpg)
Fertilization may result in trisomy or monosomyTrisomy –
○ Example: Down’s Syndrome (Trisomy 21); Klinefelter’s Syndrome (XXY)
4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21).
![Page 15: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/15.jpg)
○ Trisomy 21 - Down Syndrome3 copies of chromosome 21Mild to severe mental retardationMany lead productive lives
![Page 16: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/16.jpg)
○ Klinefelter Syndrom (XXY condition)Most from non-disjunction in
mother Tall, some mental slownessPoor male sex organ
development; breast development; usually sterile
Personal story
![Page 17: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/17.jpg)
Monosomy –
○ Example: Turner Syndrome (XO)
4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21).
![Page 18: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/18.jpg)
○ Turner Syndrome one too few chromosomes (XO)Sterile (cannot have children), shorter than
average, heart defects, premature aging, shorter lives
○ YO = LETHALNo babies have been
reported being born
without an X
![Page 19: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/19.jpg)
Nondisjunction of sex chromosomes
![Page 20: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/20.jpg)
Some genetic disorders are caused by
• Examples include: Hemophilia, Color blindness, and Duchenne muscular dystrophy
![Page 21: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/21.jpg)
Karyotype - refers to both the chromosome composition of an individual and to a photomicrograph showing the chromosomesUses:
○ To detect genetic disorders○ For genetic counseling of prospective parents
4.2.5 – State that, in karyotyping chromosomes are arranged in pairs according to their size and structure.
![Page 22: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/22.jpg)
Process:○ Fetal cells, cells from bone marrow, skin, or blood
are cultured and then treated with colchicine (arrests the cell in metaphase)
○ Chromosomes are
4.2.5 – State that, in karyotyping chromosomes are arranged in pairs according to their size and structure.
![Page 23: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/23.jpg)
![Page 24: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/24.jpg)
Many birth defects and genetic abnormalities can be detected before birth.
4.2.6 – State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities.
![Page 25: Studying humans requires alternative methods. Human geneticists use. Human are 4.3.12 – Deduce the genotypes and phenotypes of individuals in](https://reader035.vdocuments.net/reader035/viewer/2022062806/56649f345503460f94c511c3/html5/thumbnails/25.jpg)
4.2.6 – State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities.