Lect 23 - 1 Mutation Bio Sci 97 Lecture 23 Dr. Carrie...

Info iconThis preview shows pages 1–12. Sign up to view the full content.

View Full Document Right Arrow Icon
©2003 C. Brachmann 1 Mutation Bio Sci 97  Lecture 23 Dr. Carrie Brachmann Department of Developmental and Cell Biology cbrachma@uci.edu reading lect 24:  H&J ch 13
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
©2003 C. Brachmann 2 Problems How does digestion with restriction endonucleases detect SSRs? restriction sites flanking SSRs detect the size (and therefore number) of repeats. T or F ___F______Mapping human disease genes by linkage analysis is unnecessary now that the human genome has been sequenced T or F ___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.
Background image of page 2
©2003 C. Brachmann 3 Clone Hybridize probe Replicate Restriction digest UV irradiate Choose a SNP Ligate Southern blot Try an Ames test Find a QTL Gel electrophoresis 1. A family with a daughter with short stature comes to you, a human genetic counselor, to ask you to determine if they will have another child with short stature. You isolate DNA from the mother, the father, the affected daughter and the unaffected son and tell the family that you will perform an analysis of SSRs on their chromosomes . 6pt a. What will you do with the DNA once you have it? Choose from the list and order your steps. 1. Restriction digest 2.Gel Electrophoresis 3.Southern Blot 4.Hybridize Probe Finally, a probe from the X chromosome gives you the following picture:
Background image of page 3

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
©2003 C. Brachmann 4 You look at the picture and shout AHA! b. Explain what occurred. Non-disjunction (in dad’s gamete--daughter didn’t get the X she should have from him—it didn’t disjoin from the Y) c. Will you tell the family that they WILL or WILL NOT have another child with short stature? WILL NOT
Background image of page 4
©2003 C. Brachmann 5 Problems A geneticist would like to determine why a child has Down syndrome. Would RFLP analysis of markers on chromosome 21 help a geneticist distinguish between trisomy 21 or a Robertsonian translocation involving chromosomes 21 and 14? NO The genetic map distance between two loci is well established to be 24 map units. You gamma-irradiate a fly homozygous wild-type for both loci and then testcross. Your calculations indicate that the two loci are now 5 map units apart. How will you account for this? Give two possibilities. 2pt a. inversion b. deletion T or F___T_____A cross-over that occurs within an inversion loop during meiosis results in aneuploidy.
Background image of page 5

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
©2003 C. Brachmann 6 all affected individuals marked with  red Can you explain this pedigree???
Background image of page 6
©2003 C. Brachmann 7 Outline The Genetic Code Mutations Types of mutations Types of mutagens DNA repair
Background image of page 7

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
©2003 C. Brachmann 8 Review The Central Dogma Information flows from DNA to RNA to protein DNA is a linear polymer of A,T,G,C deoxyribonucleotides DNA is double-stranded A pairs with T, G pairs with C; C and T are pyrimidines, G and A are  purines RNA is a single-stranded linear polymer of A,U,G,C  ribonucleotides
Background image of page 8
©2003 C. Brachmann 9 The Genetic Code
Background image of page 9

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
©2003 C. Brachmann 10 DNA-->RNA-->protein H&J Fig 1.17
Background image of page 10
©2003 C. Brachmann
Background image of page 11

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Image of page 12
This is the end of the preview. Sign up to access the rest of the document.

Page1 / 49

Lect 23 - 1 Mutation Bio Sci 97 Lecture 23 Dr. Carrie...

This preview shows document pages 1 - 12. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online