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Chapter 18 and Chapter 20 Cell division and the Human Life Cycle + Chromosome Disorders DNA INFORMATION IS WRITTEN IN A CHEMICAL LANGUAGE= DNA OUR CELLS READ THE DNA IN THE NUCLEUS AND FOLLOW THE INSTRUCTIONS WRITTEN ON IT LONG STRANDS OF DNA ARE CALLED CHROMOSOMES CHROMOSOMES UNROLLED WHEN READ OR COPIED WE HAVE 2 VERSIONS OF EACH TYPE OF CHROMOSOME (1 FROM MOTHER AND 1 FROM FATHER) 23 TYPES x 2 VERSIONS= 46 TOTAL THE 23RD PAIR (TYPE) ARE THE SEX CHROMOSOMES WHICH CONTAIN THE GENES THAT DETERMINE SEX CHROMOSOME PROBLEMS MISTAKES ARE SOMETIMES MADE AS THE EGG AND SPERM ARE BEING MADE SOMETIMES THE CHROMOSOMES IN THE EGG OR SPERM ARE DAMAGED OR TOO MANY OR TOO FEW CHROMOSOMES END UP IN THE EGG OR SPERM PROBABLY MOST OF THESE TYPES AF CHROMOSOME ERRORS ARE NOT SURVIVABLE AND END IN A MISCARRAIGE SOME OF THE EMBRYOS WITH DAMAGED/MISING/EXTRA CHROMOSOMES DO SURVIVE AND DEVELOP BUT WITH PROBLEMS CHROM. DISORDERS DOWN SYNDROME- SHORT STATURE, EYELID FOLD, ROUND HEAD, RETARDATION (VARYING LEVEL) ALSO CALLED TRISOMY 21- CAUSED BY AN EXTRA COPY OF CHROMOSOME #21 MORE COMMON IN CHILDREN BORN TO OLDER MOTHERS CRI DU CHAT FRENCH FOR “CRY OF CAT” SMALL HEAD, MALFORMED LARYNX OLDER- MISSHAPEN EARS, RETARDATION CAUSE= PART OF CHROMOSOME #5 IS MISSING SEX CHROMOSOMES X AND Y- THE 23RD PAIR WOMEN- XX MEN- XY EGG- X SPERM- X OR Y 50/50 CHANCE OF PRODUCING A BOY VS. GIRL SEX CHROM. DISORDERS FRAGILE X SYNDROME- DAMAGED X CHROMOSOME CHILD- HYPERACTIVE, AUTISTIC ADULT- PROMINENT JAW AND EYES MALES- RETARDATION MORE COMMON WRONG # OF SEX CHROM. XO- TURNER SYNDROME FEMALE WITH NO SEXUAL CHARACTERISTICS- INFERTILE SHORT, WEBBED NECK, BROAD CHEST NORMAL INTELLIGENCE XXY- KLINFELTER Male with an extra X chromosome STERILE MALE WITH LARGE HANDS AND FEET, LONG ARMS AND LEGS, MAY HAVE BREASTS SOME ARE SLOW LEARNERS XXX- TRIPLO- X A female with an extra X chromosome SOME HAVE MENSTRUAL IRREGULARITIES AND EARLY MENOPAUSE OTHERS LIVE A NORMAL LIFE XYY- JACOB SYNDROME MALE WITH AN EXTRA Y CHROMOSOME TALL MALE WITH PERSISTENT ACNE SOME HAVE SPEECH AND READING PROBLEMS HUMAN LIFE CYCLE GROWTH- MITOSIS- SIMPLE CELL DIVISION SEXUAL REPRODUCTION- UNION OF GAMETES (SPERM AND EGG) GAMETES HAVE ONLY ONE COPY OF EACH TYPE OF CHROMOSOME ZYGOTE GETS TWO COPIES (VERSIONS) OF EACH CHROM. MITOSIS THE DIVISION OF ONE BODY CELL INTO 2 IDENTICAL BODY CELLS NORMAL BODY CELLS ARE DIPLOID (2N) 2N 2N + 2N 5 STEPS INTERPHASE SOME CELLS STAY IN THIS PHASE FOREVER (example- brain and spinal cord cells- these are not replaced when they are damaged) IF A CELL IS PREPARING TO DIVIDE, IT WILL COPY THE CHROMOSOMES ID CHROMOSOMES ARE PRODUCED CALLED SISTER CHROMATIDS AND ARE JOINED AT THE CENTROMERE PROPHASE NUCLEAR MEMBRANE FRAGMENTS DNA COILS UP INTO VISIBLE CHROMOSOMES SPINDLE FIBERS FORM FROM CENTRIOLS AND ATTACH TO CHROMOSOMES METAPHASE CHROMOSOMES ARE ALIGNED ALONG THE CENTER OF THE CELL ANAPHASE SISTER CHROMATIDS ARE PULLED APART (CENTROMERE IS SEPARATED) TELOPHASE CHROMOSOMES ARRIVE AT THE POLES AND A LASSO-LIKE FIBER PINCHES THE CELLS APART NUCLEAR MEMBRANE REFORMS DNA UNCOILS INTO CHROMATIN AND IS READABLE AGAIN RESULTS IN 2 ID DIPLOID DAUGHTER CELLS GAMETE PRODUCTION GAMETES ARE HAPLOID (N) CONTAIN ONLY ONE COPY OF EACH TYPE OF CHROMOSOME MEIOSIS- PROCESS THAT PRODUCES GAMETES 2N CELL IN OVARIES OR TESTES HAPLOID GAMETES MEIOSIS 2 SETS OF STAGESMEIOSIS 1 AND 2 PROPHASE 1 - RECOMBINATION (CROSSING OVER) OCCURSHOMOLOGOUS CHROMOSOMES SWAP LEGS RESULTS IN A NEW COMBINATION OF TRAITS IN 2 OF THE 4 GAMETES PROBLEMS IN MEIOSIS NON- DISJUNCTION - FAILURE OF THE CHROMOSOMES TO SEPARATE PROPERLY DURING MEIOSIS RESULTS IN AN UNEQUAL DISTRIBUTION OF CHROMOSOMES IN THE GAMETES CAUSE OF DOWNS SYNDROME AND SEX CHROMOSOME DISORDERS Inheritance Patterns GENETICS THE STUDY OF HOW TRAITS ARE INHERITED ALLELES- ALTERNATIVE FORMS OF THE SAME TRAIT THAT HAVE THE SAME POSITION ON HOMOLOGOUS CHROMOSOMES ALLELES DOMINANT ALLELE- WRITTEN AS A CAPITAL LETTER RECESSIVE ALLELE- WRITTEN AS A LOWERCASE LETTER EVERYONE HAS 2 ALLELES, ONE ALLELE CAME FROM YOU MOTHER AND THE OTHER CAME FROM YOUR FATHER COMBINATIONS 2 DOMINANT ALLELES= THE DOMINANT APPEARANCE (HOMOZYGOUS) 2 RECESSIVE ALLELES= THE RECESSIVE APPEARANCE (HOMOZYGOUS) 1 DOMINANT AND 1 RECESSIVE ALLELE= USUALLY THE DOMINANT APPEARANCE (HETEROZYGOUS) GENO AND PHENOTYPES GENOTYPE- THE ALLELES THAT ARE PRESENT PHENOTYPE- THE OUTWARD APPEARANCE OF AN ORGANISM GAMETE FORMATION A RESULT OF MEIOSIS THE 2 ALLELES ARE SEPARATED FROM EACH OTHER SO THAT EACH GAMETE CONTAINS ONLY ONE OF THE 2 ALLELES PUNNETT SQUARE SHOWS THE POSSIBLE GENOTYPES OF THE OFFSPRING ALL POSSIBLE PARENTAL GAMETES ARE WRITTEN ON THE EDGES THE CENTER IS FILLED IN AND REPRESENTS THE POSSIBLE GENOTYPES OF THE CHILDREN PUNNETT SQUARE S= smooth s= wrinkled Male parent genotype= Ss Female Parent genotype= Ss Genotypes- 25% of offspring will be SS (homozygous dominant) 50% will be Ss (heterozygous) and 25% will be ss (homozyg. recessive) Phenotypes- 75% of offspring will be smooth and 25% will be wrinkled DOMINANT DISORDERS NEUROFIBROMATOSIS BIRTH- TAN SPOTS ON THE SKIN SMALL BENIGN TUMORS GROW RANDOMLY THROUGHOUT THE BODY CAN BE MILD OR SEVERE CAUSE= A MUTATED GENE THAT CONTROLS CELL DIVISION DOMINANT DISORDERS HUNTINGTONS DISEASE DEGENERATION OF BRAIN CELLS IN MIDDLE AGED PEOPLE MUSCLE SPASMS AND PERSONALITY DISORDERS 10-15 YRS AFTER ONSET= DEATH CAUSE= A DNA REPEAT ON CHROMOSOME #4 Polydactyly- DOMINANT RECESSIVE DISORDERS CYSTIC FIBROSIS- 1/20 CAUCASIANS IS A CARRIERTHICK MUCUS IS PRODUCED IN THE LUNGS AND PANCREAS = DIFFICULTY BREATHING AND DIGESTING FOODAVERAGE LIFE SPAN= 28 YEARS CAUSE= BAD GENE ON CHROMOSOME 7 RECESSIVE DISORDERS PHENYLKETONURIA (PKU) PERSONS LACK AN ENZYME THAT BREAKS DOWN PHENYLALANINE UNLESS CHILDREN ARE PUT ON A DIET LOW IN PHENYLALANINE THEY WILL BECOME RETARDED CAUSE= DAMAGED GENE FOR THE IMPORTANT ENZYME POLYGENIC TRAITS ONE TRAIT IS DETERMINED BY 2 OR MORE SETS OF ALLELES SKIN COLOR AND HEIGHT SOME RESEARCH SUGGESTS THAT ALLERGIES AND CANCER MAY ALSO BE CONTROLLED BY POLYGENES MULTIPLE ALLELIC TRAITS HUMAN BLOOD TYPE A, B, O, AB USED IN PATERNITY SUITS TO DISPROVE FATHERHOOD INCOMPLETE DOMINANCE THE INDIVIDUALS WITH ONE OF EACH TYPE OF ALLELE HAVE A MIXTURE OF THE TWO TRAITS Red x White = Pink SICKLE CELL ANEMIA N= NORMAL n= SICKLE CELLS nn= SICKLE CELL ANEMIA= DIE WITHOUT TREATMENT Nn= CELLS WILL SICKLE ONLY UNDER STRESS= MALARIA PROTECTION IN AFRICA- 60% ARE CARRIERS TREATED BY BONE MARROW TRANSPLANTS SEX LINKED TRAITS X- LINKED TRAIT= ONLY CARRIED ON THE X CHROMOSOME RED/GREEN COLOR BLINDNESS- 8% OF CAUCASIAN MALES MUSCULAR DYSTROPHY- MALE BABIES- POOR MUSCLE FUNCTION SONS GET THESE X LINKED TRAITS FROM THEIR MOTHERS MORE X-LINKED TRAITS HEMOPHILIA- 1/15,000 MALE BIRTHS LACK A BLOOD CLOTTING FACTOR AND TEND TO BLEED/BRUISE MUCH MORE WHEN INJURED SEX INFLUENCED TRAITS PATTERN BALDNESS RECESSIVE IN FEMALES, BUT IN THE PRESENCE OF TESTOSTERONE IT WILL BE EXPRESSED THIS MEANS THAT IT IS DOMINANT IN MALES MALE- Nn OR nn = BALD FEMALE- Nn= NORMAL because they don’t have enough testosterone for it to be expressed nn= BALD WOMAN