Pedigree analysis of sickle-cell disease

Slides:



Advertisements
Similar presentations
Lecture 44 Prof Duncan Shaw. Recombinant DNA technology First technical breakthrough in medical genetics was chromosome analysis in 1950s Second is recombinant.
Advertisements

Lecture 21: Molecular Tools of Genetic Diagnosis Reading Assignment: Chapter 42, pgs ; Harper’s Biochemistry (25 th edition). Objective: To understand.
& Gel Plasmid Electrophoresis Mapping.
Molecular Analysis of Genes and Gene Products BIT 220 Chapter 22.
Chapter 20~DNA Technology & Genomics. Who am I? Recombinant DNA n Def: DNA in which genes from 2 different sources are linked n Genetic engineering:
Class 22 DNA Polymorphisms Based on Chapter 10 Recombinant DNA Technology Copyright © 2010 Pearson Education Inc.
Molecular markers Non-PCR based 1courtesy of Carol Ritland.
Recombinant DNA Technology
Copyright © by Holt, Rinehart and Winston. All rights reserved. ResourcesChapter menu Recombinant DNA Cloning Vectors –Researchers use restriction enzymes.
DO NOW What is a genome? In what year was the Human Genome Sequence completed? How different is your genome from Mrs. Schwichtenberg? (Give a percent)
Today in Lab: In Search of the Sickle Cell Gene. A Simple Mutation With a Profound Impact.
Overview of two hybrid system for identifying and characterizing protein–protein interactions. Shown are the basic components and operation of the two.
Sickle Cell Anemia: Tracking an Inherited Trait
Genetic strategies used to create a mouse model of SMA
The transcription cycle
Outline of the chromatin immunoprecipitation (ChIP) technique
Steps involved in DNA replication
Pantothenic acid and coenzyme A
Symbols used to construct molecular circuit diagrams in systems biology. (Top) Sample flowchart symbols. (Bottom) Graphical symbols for molecular interaction.
Methods for site-directed mutagenesis
Mecanismo de “ping-pong” para la transaminación
Southern blot analysis of the X-linked red-green gene locus
Use of restriction endonucleases to make new recombinant or chimeric DNA molecules. When inserted back into a bacterial cell (by the process called DNA-mediated.
Use of restriction endonucleases to make new recombinant or chimeric DNA molecules. When inserted back into a bacterial cell (by the process called DNA-mediated.
YAC and BAC cloning systems
Diagnostic algorithm for normocytic anemia.
Biogenesis of micro (mi) and silencing (si)RNAs
Distribution of CpG dinucleotide in the human genome and differences in methylation patterns between normal and tumor cells. In the majority of the mammalian.
The use of reporter genes to define DNA regulatory elements
Transporte de colesterol entre los tejidos en seres humanos
Intracellular location and overview of major metabolic pathways in a liver parenchymal cell. (AA →, metabolism of one or more essential amino acids; AA.
Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.
Mechanism of proteolysis by the serine protease chymotrypsin
Mecanismo de “ping-pong” para la transaminación
Sickle Cell Anemia: Tracking an Inherited Trait
Depiction of meiotic crossing over and linkage analysis
Overview of two hybrid system for identifying and characterizing protein–protein interactions. Shown are the basic components and operation of the two.
Genetic markers and their detection
Use of glutathione S-transferase (GST) fusion proteins to purify recombinant proteins. (GSH, glutathione.) Source: Enzymes: Mechanism of Action, Harper's.
Mammals use multiple DNA repair pathways of variable accuracy to repair the myriad forms of DNA damage genomic DNA is subjected to. Listed are the major.
Proteínas de membrana importantes del eritrocito humano
Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q illustrate.
Arrangement of filaments in striated muscle. (A) Extended
Sickle cell gene inheritance scheme for one parent with sickle cell trait (SCT) and one parent with no sickle cell gene. Possibilities with each pregnancy:
YAC and BAC cloning systems
The citric acid (Krebs) cycle
De: Oxidación biológica, Harper. Bioquímica ilustrada, 30e
Catabolism to amphibolic intermediates of l-asparagine (top) and of l-glutamine (bottom). (ALA, l-alanine; PYR, pyruvate.) In this and subsequent figures,
Interaction between antioxidants in the lipid phase (cell membranes) and the aqueous phase (cytosol). (R•, free radical; PUFA-OO•, peroxyl radical of polyunsaturated.
Restriction Enzymes and Plasmid Mapping
RFLP “Restriction Fragment Length Polymorphism” Basic idea: Uses:
STEVE S. SOMMER, M.D., Ph.D.  Mayo Clinic Proceedings 
A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site  Shujian Liang, Harold N. Bass,
Human Molecular Genetics
Restriction fragment-length polymorphisms (RFLPs)
Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.
Figure 1. Generation of the S250F Aadc mutant mice
Molecular typing for fungi—a critical review of the possibilities and limitations of currently and future methods  C. Gil-Lamaignere, E. Roilides, J.
Peter Ianakiev, Michael W
Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.
A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis  Shinichi.
Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay  Thomas M. Daly, Arash Rafii, Rick A. Martin,
X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)  Francisco Martínez, José María Millán,
Volume 58, Issue 2, Pages (August 2000)
Chapter 4 Genes, Genomes and DNA
Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda  Kimberley Morine Ward, Jülide.
Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.
Tools for Molecular Biology
Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup 
The Size Distribution of Homozygous Segments in the Human Genome
Presentation transcript:

Pedigree analysis of sickle-cell disease Pedigree analysis of sickle-cell disease. The top part of the figure (A) shows the first part of the β-globin gene and the MstII restriction enzyme sites in the normal (A) and sickle-cell (S) β-globin genes. Digestion with the restriction enzyme MstII results in DNA fragments 1.15 kb and 0.2 kb long in normal individuals. The T-to-A change in individuals with sickle-cell disease abolishes one of the three MstII sites around the β-globin gene; hence, a single restriction fragment 1.35 kb in length is generated in response to MstII. This size difference is easily detected on a Southern blot. (B) Pedigree analysis shows three possibilities: AA = normal (open circle); AS = heterozygous (half-solid circles, half-solid square); SS = homozygous (solid square). This approach can allow for prenatal diagnosis of sickle-cell disease (dash-sided square). See the text. Source: Molecular Genetics, Recombinant DNA, & Genomic Technology, Harper's Illustrated Biochemistry, 30e Citation: Rodwell VW, Bender DA, Botham KM, Kennelly PJ, Weil P. Harper's Illustrated Biochemistry, 30e; 2015 Available at: http://accesspharmacy.mhmedical.com/DownloadImage.aspx?image=/data/books/1366/rod_ch39_f009.png&sec=73245579&BookID=1366&ChapterSecID=73245504&imagename= Accessed: December 22, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved