733Lecture07 - Readings for Fuerst (revised) MARKERS...

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MARKERS Readings for Fuerst (revised) Chapter 2 Chapter 4 Chapter 5 137-138 (STS) Chapter 6 (section 6.4.3 p 175-178) Chapter 7 – (section 1; p 182-187)[and associated figures] Chapter 8; p 221-225 Chapter 13 Chapter 14 (14.3.1 and fig 14.4) Chapter 15 Chapter 18 ( section 18.4-18.7; p 515-536) GENETIC MARKERS Variable DNA or protein sequence which can be used in genetic analysis and genetic mapping Usually involve population “polymorphisms” – occurrence at a locus of identifiable alternative alleles each at an appreciable frequency in the population GENETIC MARKER Polymorphic markers – Two or more alternative alleles each at frequency > 1% – marker alleles can be used to follow the alternative forms of a “trait / phenotype / disease” gene in family and population studies POLYMORPHISM Any variation within a family is useful for linkage analysis – ALLELES <0.01 ARE “RARE VARIANTS" • may or may not be useful – polymorphic alleles more likely to be useful in any random family USES OF POLYMORPHIC MARKERS Presymptomatic and prenatal diagnosis of genetic disease (indirectly) detection of heterozygous carriers of genetic disease (indirectly) markers of increased or decreased risk for disease – Diabetes (either type I or type II) – Alzheimer’s disease –CVD – Cancer
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USES OF POLYMORPHIC MARKERS Mapping of other genes (by linkage) Donor-recipient matching for tissue transplantation (for special loci) Zygosity testing Paternity testing Forensic applications potential genetic markers (see box 13.1 – p 403) Chromosomal heteromorphisms Blood Groups Enzymes, Serum Proteins and Structural Proteins Antigenic variants: tissue types - HLA variants (MHC complex) DNA markers DNA POLYMORPHISMS Variation at the level of the gene – Either: • Direct (sequences) • Indirect (DNA fragments) with inherited variation OPTIMAL CHARACTERISTICS FOR A DNA MARKER Can be determined from small amount of material – repeated tests for different markers likely to be required “highly” variable – more than 50% of individuals heterozygous in population co-dominant inheritance – heterozygotes easy to score other duplicated sequences exist in the genome which avoid the shortcomings of VNTR sequences STR (microsatellites)
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This note was uploaded on 07/17/2008 for the course EEOB 733 taught by Professor Burghes during the Spring '05 term at Ohio State.

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733Lecture07 - Readings for Fuerst (revised) MARKERS...

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