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4.3.12 – Deduce the genotypes and phenotypes of individuals in pedigree charts. Studying humans requires alternative methods. Human geneticists use . Human are Label: 4.3.12 – Deduce the genotypes and phenotypes of individuals in pedigree charts. Human Pedigree tracing a dominant trait Human Pedigree tracing a recessive trait Human Pedigree tracing a sex-linked trait 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. Human genetic disorders result from . Gene Mutations – 1. 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 4.1.4 – Explain the consequence of a base substitution mutation in relation the process of transcription and translation, using the example of sickle-cell anemia. 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. 4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). 2. Chromosome mutations – • Results from nondisjunction – Extra chromosomes Missing chromosomes 4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). Fertilization may result in trisomy or monosomy Trisomy – ○ Example: Down’s Syndrome (Trisomy 21); Klinefelter’s Syndrome (XXY) ○ Trisomy 21 - Down Syndrome 3 copies of chromosome 21 Mild to severe mental retardation Many lead productive lives ○ Klinefelter Syndrom (XXY condition) Most from non-disjunction in mother Tall, some mental slowness Poor male sex organ development; breast development; usually sterile Personal story 4.2.4 – Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). Monosomy – ○ Example: Turner Syndrome (XO) ○ Turner Syndrome one too few chromosomes (XO) Sterile (cannot have children), shorter than average, heart defects, premature aging, shorter lives ○ YO = LETHAL No babies have been reported being born without an X Nondisjunction of sex chromosomes Some genetic disorders are caused by • Examples include: Hemophilia, Color blindness, and Duchenne muscular dystrophy 4.2.5 – State that, in karyotyping chromosomes are arranged in pairs according to their size and structure. Karyotype - refers to both the chromosome composition of an individual and to a photomicrograph showing the chromosomes Uses: ○ 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. Process: ○ Fetal cells, cells from bone marrow, skin, or blood are cultured and then treated with colchicine (arrests the cell in metaphase) ○ Chromosomes are 4.2.6 – State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities. 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.