lecture10F06 - Lecture 10: Genetics: Patterns of...

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Unformatted text preview: Lecture 10: Genetics: Patterns of Inheritance in Humans Pedigree analysis for determining patterns of inheritance in humans. reasons, symbols Five categories of genetic diseases observed in humans. single gene (Mendelian) disorders; multifactorial (polygenic) traits; chromosomal abnormalities; mitochondrial inheritance; diseases of unknown etiology Examples of single-gne recessive traits; be able to identify the pattern of inheritance. cystic fibrosis; Tay-Sachs; sickle cell disease Examples of single-gene dominant traits; be able to identify the pattern of inheritance. Huntington Disease Examples of multifactorial traits; be able to identify the pattern of inheritance. blood pressure Examples of mitochondrial traits; be able to identify the pattern of inheritance. Lebers hereditary optic neuropathy Forensic DNA analysis microsatellite locus Readings: Ch. 14, 14.4 to end You need to be able to explain the following to yourself and to me (on exams): Because: The human generation time is about 20 years. Humans produce relatively few offspring compared to most other species. Well-planned breeding experiments are impossible. Why do we need to study pedigrees to understand Mendelian inheritance in humans? Single gene traits studied using a pedigree: Pedigree analysis reasons symbols Conventional Symbols for Human Pedigrees Normal male Normal female Normal, sex irrelevant or unknown Affected male Affected female Affected, sex irrelevant or unknown Mating Between relatives I II Last born siblings Sibling birth order from left to right Pedigree analysis reasons symbols Figure 14.14 Pedigree analysis Widows peak Attached ear lobe Pedigree analysis reasons symbols We will return to this figure for details Five general categories of genetic disorders exist Single gene (Mendelian) disorders Polygenic (multifactorial) traits Mitochondrial diseases Chromosomal abnormalities (Lectures 10, 12 ) Diseases of unknown etiology (causes) that run in families Five categories of diseases single gene disorders multifactorial traits mitochondrial inheritance Recessive* pedigree patterns: Many people in these pedigrees were probably carriers - heterozygotes Five categories of diseases single gene disorders rrecessive dominant multifactorial traits mitochondrial inheritance *Strictly speaking, these are autosomal recessive patterns - autosomal means not on sex chromosomes - we will cover this in detail soon. Figure 14.14 Pedigree analysis Widows peak Attached ear lobe: recessive Five categories of diseases single gene disorders rrecessive dominant multifactorial traits mitochondrial inheritance Genetic diseases to know for IB150 (*in Chapter 14) *Tay-Sachs disease: single gene, autosomal recessive, early lethal, no homozygotes reproduce, carriers have normal phenotype *Sickle cell anemia: single gene, autosomal recessive, condition can be treated, carriers may have symptoms (sickle cell trait) *Cystic fibrosis:...
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This note was uploaded on 04/07/2008 for the course IB 201 taught by Professor Hughes/berlocher during the Spring '07 term at University of Illinois at Urbana–Champaign.

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lecture10F06 - Lecture 10: Genetics: Patterns of...

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