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Genetic Tools The Human Genome: A genome is all the DNA in an organism. Human Karyotype • A karyotype is an organized profile of a person's chromosomes • Extra, missing, or abnormal positions of chromosome pieces can cause problems with a person's growth, development, and body functions. Girl Boy Autosomal Chromosomes (Pairs 1-22) Sex Chromosomes (23rd pair) Chromosomal disorders are caused by nondisjunction What is the sex of the child? Is there a chromosomal disorder? On which chromosome pair is the disorder located? Down Syndrome Mothers in early 20s 1 in 1,500 births Mothers over 35 1 in 70 births Mothers over 45 1 in 25 births Turners (45, XO) • 1 in 3,000 female births • Sterile females Klinefelters (XXY) • 2 in 1000 male births • Sterile males Geneticists Wanted • WANTED: Very intelligent scientists to help figure out what is wrong with these children? Background: • Mr. and Mrs. Raider are deeply worried about their child who seems to be developing at a slower rate. They are concerned for the child’s health just like any other parent and have come to you for help. Jaxton's Story - Trisomy 18 What to hand in: • You will identify the disorder that the child has based on the given karyotype and then research information about that disorder. • You will create a poster that describes aspects of the genetic disorder you have diagnosed. • Information to be included on the poster -What is the disorder (name and chromosome location)? -Is it an autosomal or sex linked disorder? -How often does this genetic disorder happen? -What are the symptoms? -What is the life expectancy? -Is there any help/treatment/therapy? -Any additional information you find interesting Child A Child B Child C Child D Child E Child F Child G Sex-Linkage • Genes that are carried on the X chromosome are called Sex-linked genes. • Traits determined by sex-linked genes are called sexlinked traits. • Because of this, sex-linked traits are most often seen in males who only have one copy of the X chromosome. Sex-linked traits Since traits are sex-linked, there is usually a distinct pattern. For example, color blindness is a sex-linked trait whose allele is recessive and located on the X chromosome. Conditions caused by sex-linked genes -Hemophilia -Colorblindness -Duchene Muscular Dystrophy -Male patterned baldness Amoeba Sisters - Sex Linked Traits Sex-Linkage • Female- (XX) She must have two recessive alleles to express the recessive phenotype. • Male- (XY) He only needs one recessive allele to express the recessive phenotype. • Example: C C • X X - Woman w/ normal vision. • X C X c - Woman w/normal vision; Carrier for colorblindness. • X c X c - Colorblind woman. • X C Y - Man w/normal vision. • X c Y - Colorblind man. • Carrier - Heterozygous for a recessive trait. Colorblind mother Normal Father C Y X X X c C c C c X X c X X Results: c X Y c X Y Colorblind mother Normal Father Y X X X c C c C c X X c Results: X X c X Y c X Y Female Carriers/ Male colorblind DNA fingerprinting • DNA Fingerprinting is a procedure whereby the genetic information, called DNA, in a person's cells is analysed and identified. DNA Fingerprinting • Crime labs can use any cell from a person’s body left behind at a crime scene to match them with DNA samples. What form of DNA might be left behind and how? DNA can also be used to determine paternity. DNA fingerprint of 5 people Lt. Russ is investigating a murder scene. The felon was scratched by his victim & some of his skin cells were found under the victim’s fingernails. A DNA test was performed. Which of the suspects is the murderer? Case #1 • A woman claims that a famous athlete is the father of her child. All three gave dna samples. Use #1 to see if she is telling the truth • M-mother • C- child • F- father Case #2 • Mrs. B went home one day and found Mr. B. dead in his recliner with the TV on. The room looked as if there had been a struggle and he was placed back in his chair. DNA evidence was taken from under his fingernails left behind in a struggle. • Who killed him? DNA-matching results for autoradiographs 1-4 #1 #2 #3 #4 child A/C E/G I/K M/O mother A/D G/G I/J M/N alleged father B/C E/F H/K L/O