Lect 22 - 1 Chromosome Rearrangements Bio Sci 97 Lecture 22...

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©2003 C. Brachmann 1 Chromosome Rearrangements Bio Sci 97  Lecture 22 Dr. Carrie Brachmann Department of Developmental and Cell Biology cbrachma@uci.edu reading lect 23:  H&J ch 7, review Gist ch 6
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©2003 C. Brachmann 2 Outline Review Chromosomal rearrangements Red-green color blindness Familial Down syndrome Rearrangements can disrupt genes
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©2003 C. Brachmann 3 Polymorphisms: minor differences in DNA that are  relatively common   Use polymorphisms to map human disease use RFLP analysis : isolate genomic DNA, cut with RE, gel, Southern blot, use many probes to find an RFLP (band with changed size relative to wild-type due to loss or gain of a RE site) that segregates with the disease. REMEMBER: the genomic location that the probe recognizes is known
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©2003 C. Brachmann 4 Use polymorphisms to map human disease use SSR analysis : same first steps, use probes for repetitive sequences to find a specific SSR that is usually inherited with the disease. REMEMBER: SSRs in people vary by the number of repeats. These are called alleles of an SSR. Allele 1: 23 repeats Allele 2: 43 repeats Allele 3: 12 repeats Allele 4: 32 repeats Allele: 1,2 3,3 4,3 2,3 1,4 AGAIN: the genomic location that the probe recognizes is known
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©2003 C. Brachmann 5 use SNP analysis : isolate genomic DNA, sequence regions that you have identified as having polymorphisms, look for a pattern that segregates with the disease. 32  33  34 Use polymorphisms to map human disease for example: disease segregates with SNPs 32, 33 and 34--at these loci individuals with C at 32, A at 33 and G at 34 usually have the disease. Thus the disease gene may be closely linked to these SNPs (inherited together). SNPs are much more frequent on the chromosome than in this schematic!!
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6 Genetic Counseling-I ©2000 Lee Bardwell 1,2 ? 3,4 2,4 5,6 4,5 Autosomal dominant disease Linked to a polymorphic marker with 6 variants The marker is tightly linked to the disease gene Does this person have the disease?
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7 Genetic Counseling-II ©2000 Lee Bardwell 1,2 ? 1,3 1,3 1,2 1,3 Autosomal dominant disease Linked to a polymorphic marker with 3 variants
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©2003 C. Brachmann 8 Problems How does digestion with restriction endonucleases detect SSRs? T or F _________Mapping human disease genes by linkage analysis is unnecessary now that the human genome has been sequenced T or F ________Your sister suffers from Marfan syndrome (incidence 1/10,000), but you, your mom and your dad are unaffected. There is a 1/4 chance that you are a carrier.
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©2003 C. Brachmann 9 Clone Hybridize probe Replicate Restriction digest UV irradiate Choose a SNP Ligate Southern blot
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Lect 22 - 1 Chromosome Rearrangements Bio Sci 97 Lecture 22...

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