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Transcript
Extending Mendelian Genetics Chapter 7 Mr. Scott Human Heredity Human body • 46 chromosomes ____________________ sperm cell with 23 chromosomes Haploid egg cell with 23 chromosomes They form a diploid zygote or fertilized egg cell with 46 chromosomes Human Heredity • 2 of the 46 chromosomes • Determine the sex of that person Females have X and X or XX chromosomes Males have X and Y or XY chromosomes Human Heredity • The other 44 chromosomes found in all body cells • These are the chromosomes separate from the sex cells • Typically numbered on a _________________________ Human traits Pedigree chart – • Shows how traits may be passed through generations Human genes Human Heredity Human Heredity Blood group genes • Rh blood groups Positive and negative Rh+ is dominant • ABO blood groups IA, I B, and i IA and I B are codominant Human Heredity Recessive alleles • Genetic disorders usually are not discovered until ___________________________________________ Dominant alleles • Anyone ___________________________________ will have the disorder Codominant alleles From gene to molecule Human Heredity • Common in people from northern Europe • Serious digestive and breathing problems • Caused by the _________________________________________ Human Heredity • Blood cells doughnut or comma shaped • Heterozygous people don’t contract malaria • Humans with all sickle celled blood can die • Why do so many African Americans have sickle celled blood? Human Chromosomes Human genes and chromosomes One cell has __________________________________ or A,C,T,& G 46 Chromosomes are found in every diploid human cell Human Chromosomes Only ___________________________ of all DNA is used for genes or transcribed into RNA Average genes are 3,000 base pairs Largest gene is _____________________________________________ Human Chromosomes Chromosomes __________________________________ are the smallest • 22 has 545 genes (43 million base pairs) • 21 has 225 genes (21 million base pairs) Lou Gehrig’s Disease or Amyotrophic Lateral Sclerosis(ALS) Sex-linked genes – Human Chromosomes Colorblindness • Red-green colorblindness 1 in 10 males 1 in 100 females W hy do more males have colorblindness? Human Chromosomes • Blood does not clot properly • Is determined by two genes on the X-chromosome • 1 in 10,000 males • Ryan White Human Chromosomes Duchenne Muscular Dystrophy • • 1 in 3,000 males • Caused by a defective gene that codes for a protein in muscles Human Chromosomes X-chromosome inactivation __________________________ – dense area in a nucleus where the inactivated X chromosome is located Each cell controls which X chromosome is turned off • Calico cat Chromosomal Disorders Human Chromosomes Nondisjunction – Human Chromosomes Down syndrome • Caused by ____________________________ of chromosome 21(Trisomy 21) • 1 in 800 babies • This is a nondisjunction condition Human Chromosomes Sex chromosome disorders • Females (45,X) • Sterile • No sex organs • Males (47, XXY) • Sterile Gene linkage Linkage and Gene Maps Chromosomes assort independently, not individual genes Linkage and Gene Maps Shows the exact location of each known gene on one chromosome Human DNA analysis Human Molecular Genetics Search the human genome using sequences of DNA bases Human Molecular Genetics • No two humans are exactly alike • Analyze and compare low function DNA segments Human Molecular Genetics The Human Genome Project An ongoing effort to analyze the ___________________________ Finished in 2000 Human Molecular Genetics A breakthrough for everyone • Public access to Human genome project Human Molecular Genetics Changing the gene that causes a genetic disorder • Use ________________________ to infect cells with good gene • 1999 - First person cured of genetic disorder Human Heredity Human chromosomes Karyotype – Human Heredity Human Molecular Genetics Ethical issues in human genetics Should we use genetics to make people better?