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CHAPTER 14 THE HUMAN GENOME

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LOOK INSIDE CELLS CHROMOSOMES ARE PRESENT. CHROMOSOMES ARE ... ONE DNA BASED IS CHANGED CAUSING AMINO ACID GLUTAMIC ACID TO SUBSTITUTE AMINO ACID VALINE ... – PowerPoint PPT presentation

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Title: CHAPTER 14 THE HUMAN GENOME


1

CH 14 THE HUMAN GENOME
14-1 HUMAN HEREDITY 14-2 HUMAN CHROMOSOMES 14-3
HUMAN MOLECULAR GENETICS
2
CHAPTER 14THE HUMAN GENOME
  • 14-1 - HUMAN CHROMOSOMES
  • WHAT MAKES US HUMAN? LOOK INSIDE CELLS
    CHROMOSOMES ARE PRESENT
  • CHROMOSOMES ARE PHOTOGRAPHED DURING MITOSIS
  • A KARYOTYPE IS A PICTURE OF CHROMOSOMES ARRANGED
    INTO PAIRS
  • KARYOTYPING ACTIVITY

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HUMAN CHROMOSOMES
  • THERE ARE 46 CHROMOSOMES IN OUR BODY CELLS
  • THEY ARE ARRANGED INTO 23 PAIRS
  • THE 23RD PAIR IS CALLED THE SEX CHROMOSOMES
  • THE REMAINING 22 PAIRS ARE CALLED AUTOSOMES
  • FEMALE 46XX AND MALE 46XY

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HUMAN CHROMOSOMES
  • EACH EGG CELL CARRIES ONE X CHROMOSOME (23 X)
  • HALF THE SPERM CARRY AN X CHROMOSOME (23 X) AND
    HALF CARRY A Y CHROMOSOME (23 Y)
  • THEREFORE, MALES DETERMINE THE SEX OF THE CHILD

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HUMAN TRAITS
  • HUMAN TRAITS ARE INHERITED ACCORDING TO THE SAME
    PRINCIPLES THAT MENDEL DISCOVERED WITH HIS PEAS.
  • NOT ALL TRAITS ARE INHERITED SOME ARE INFLUENCED
    BY THE ENVIRONMENT
  • TO DETERMINE IF INHERITED, ONE MUST STUDY HOW THE
    TRAIT IS PASSED ON FROM GENERATION TO GENERATION

9
PEDIGREE CHARTS
  • A PEDIGREE CHART SHOWS RELATIONSHIPS WITHIN
    FAMILIES
  • GENETIC COUNSELORS USE THEM TO DETERMINE
    GENOTYPES OF FAMILY MEMBERS

10
Figure 14-3 A Pedigree
Section 14-1
A circle represents a female.
A square represents a male.
A horizontal line connecting a male and female
represents a marriage.
A vertical line and a bracket connect the parents
to their children.
A half-shaded circle or square indicates that a
person is a carrier of the trait.
A circle or square that is not shaded indicates
that a person neither expresses the trait nor is
a carrier of the trait.
A completely shaded circle or square indicates
that a person expresses the trait.
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Pedigree Practice
  • http//www.zerobio.com/drag_gr11/pedigree/pedigree
    _overview.htm

12
GENES AND THE ENVIRONMENT
  • MANY GENES ARE STRONGLY INFLUENCED BY THE
    ENVIRONMENT
  • NUTRITION AND EXERCISE

13
HUMAN GENES
  • OUR HUMAN GENOME OUR COMPLETE SET OF GENETIC
    INFORMATION INCLUDES OVER TENS OF THOUSANDS OF
    GENES
  • ONE OF THE FIRST GENES TO BE IDENTIFIED WERE
    THOSE THAT CONTROL BLOOD TYPE

14
BLOOD GROUP GENES
  • RECALL THAT THERE ARE 3 ALLELES THAT CONTROL
    BLOOD TYPE A,B,O
  • A IS DOMINANT TO O
  • B IS DOMINANT TO O
  • O IS RECESSIVE
  • A AND B ARE CODOMINANT MEANING BLOOD TYPE AB

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Figure 14-4 Blood Groups
Section 14-1
Safe Transfusions
Antigen on Red Blood Cell
Phenotype (Blood Type
Genotype
From
To
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BLOOD GROUP GENES
  • Rh BLOOD GROUP DETERMINED BY SINGLE GENE
  • CAN BE POSITIVE OR NEGATIVE
  • Rh/Rh OR Rh/Rh- ARE Rh POSITIVE INDIVIDUALS
  • Rh-/Rh- ARE Rh NEGATIVE INDIVIDUALS

17
RECESSIVE ALLELES
  • MANY HUMAN GENES HAVE BECOME KNOWN THROUGH THE
    STUDY OF GENETIC DISORDERS
  • SOME EXAMPLES ARE

18
SOME AUTOSOMAL RECESSIVE DISORDERS IN HUMANS
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SOME AUTOSOMAL DOMINANT DISORDERS IN HUMANS
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AUTOSOMAL DISORDER CAUSED BY CODOMINANT ALLELES
  • SICKLE CELL DISEASE SICKLE RED BLOOD CELLS
    DAMAGE TO MANY TISSUES
  • SS NORMAL
  • Ss SOME CELLS SHAPED LIKE SICKLES
  • ss SICKLE CELL ANEMIA

21
Concept Map
Section 14-1
Autosomol Disorders
caused by
include
include
include
22
FROM GENE TO MOLECULE
  • A SMALL CHANGE IN THE DNA OF A SINGLE GENE
    AFFECTS THE STRUCTURE OF A PROTEIN CAUSING A
    SERIOUS GENETIC DISORDER
  • TWO EXAMPLES TAY SACHS DISEASE AND SICKLE CELL
    DISEASE

23
CYSTIC FIBROSIS
  • CAUSED BY RECESSIVE ALLELE ON CHROMOSOME 7
  • THICK, HEAVY MUCUS THAT CLOGS LUNGS
  • MOST CASES CAUSED BY DELETION OF 3 BASES IN A
    PROTEIN

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SICKLE CELL DISEASE
  • COMMON GENETIC DISORDER FOUND IN AFRICAN
    AMERICANS
  • SICKLE CELLS GET STUCK IN THE BLOOD VESSELS
    CAUSING DAMAGE TO BRAIN, HEART, AND SPLEEN
  • PROTEIN HEMOGLOBIN IS ALTERED
  • ONE DNA BASED IS CHANGED CAUSING AMINO ACID
    GLUTAMIC ACID TO SUBSTITUTE AMINO ACID VALINE

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14-2 HUMAN CHROMOSOMES
  • FACTS ABOUT DNA AND CHROMOSOMES
  • 1 CELL CONTAINS 6 BILLION BASE PAIRS
  • ONLY 2 OF YOUR DNA FUNCTIONS AS GENES
  • AVERAGE HUMAN GENE IS 3000 BASE PAIRS
  • LARGEST GENE 2 MILLION BASE PAIRS

27
HUMAN GENES AND CHROMOSOMES
  • CHROMOSOME 21
  • CONTAINS 225 GENES
  • ALS LOU GEHRIGS DISEASE
  • CHROMOSOME 22
  • CONTAINS 545 GENES
  • LEUKEMIA, AND TUMOR-CAUSING DISEASE

28
SEX-LINKED GENES
  • SEX-LINKED GENES GENES LOCATED ON SEX
    CHROMOSOMES
  • GENETIC DISORDERS FOUND ON THE X CHROMOSOME

29
SEX-LINKED RECESSIVE DISORDERS
  • COLORBLINDNESS UNABLE TO DISTINGUISH CERTAIN
    COLORS MOSTLY RED-GREEN
  • XCXC NORMAL FEMALE
  • XC Xc CARRIER FEMALE
  • Xc Xc COLORBLIND FEMALE
  • XCY NORMAL MALE
  • XcY COLORBLIND MALE
  • http//www.toledo-bend.com/colorblind/Ishihara.htm
    l

30
SEX-LINKED RECESSIVE DISORDERS
  • HEMOPHILIA A PROTEIN MISSING FOR NORMAL BLOOD
    CLOTTING
  • CAN BE TREATED WITH INJECTIONS OF NORMAL CLOTTING
    PROTEINS
  • http//www.ygyh.org/hemo/whatisit.htm

31
SEX-LINKED RECESSIVE DISORDERS
  • DUCHENNE MUSCULAR DYSTROPHY DISORDER THAT
    RESULTS IN WEAKENING AND LOSS OF SKELETAL MUSCLE
  • CAUSED BY A DEFECTIVE GENE THAT CODES FOR MUSCLE
    PROTEIN

32
CHROMOSOMAL DISORDERS
  • DUE TO NONDISJUNCTION AN ERROR IN MEIOSIS IN
    WHICH HOMOLOGOUS CHROMOSOMES FAIL TO SEPARATE
  • RESULTS IN ABNORMAL CHROMOSOME NUMBER

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CHROMOSOMAL DISORDERS
  • DOWN SYNDROME TRISOMY 21 HAVING 3 COPIES OF
    CHROMOSOME 21 RESULTING IN MILD TO SEVERE MENTAL
    RETARDATION

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SEX CHROMOSOME DISORDERS
  • TURNERS SYNDROME - FEMALES WHO INHERIT 1 SEX
    CHROMOSOME (X)
  • STERILE, SEX ORGANS DO NOT DEVELOP AT PUBERTY
  • KLINEFELTERS SYNDROME MALES WHO INHERIT 3 SEX
    CHROMOSOMES (XXY)
  • CANNOT REPRODUCE

37
14-3 HUMAN MOLECULAR GENETICS
  • HUMAN DNA ANALYSIS
  • WAYS THAT BIOLOGISTS SEARCH THE HUMAN GENOME
  • TESTING FOR ALLELES GENETIC TESTS THAT SCREEN
    FOR DIFFERENCES IN THE DNA CODE

38
DNA FINGERPRINTING
  • NO TWO INDIVIDUALS (EXCEPT FOR IDENTICAL TWINS)
    HAVE THE SAME DNA
  • DNA FINGERPRINT ANALYZES SECTIONS OF DNA THAT
    VARY FROM INDIVIDUAL TO INDIVIDUAL

39
HOW A DNA FINGERPRINT WORKS
  • DNA IS CUT WITH RESTRICTION ENZYMES
  • DNA IS SEPARATED BYSIZE USING GEL ELECTROPHORESIS
  • VARIABLE REGIONS ARE DETECTED USING A DNA PROBE
  • DNA SAMPLES CAN BE OBTAINED THROUGH BLOOD, SPERM,
    HAIR

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HUMAN GENOME PROJECT
  • HGP AN EFFORT TO ANALYZE THE HUMAN DNA SEQUENCE
  • OTHER ORGANISMS HAVE ALREADY BEEN SEQUENCED E.
    coli, YEAST, AND THE FRUIT FLY.
  • IN JUNE 2000 HGP WAS ESSENTIALLY COMPLETE

42
HUMAN GENOME PROJECT
  • SEARCHING FOR GENES HUMANS HAVE ABOUT 25,000
    FUNCTIONING GENES
  • THE FRUIT FLY HAS 14,000 GENES AND A TINY WORM
    ABOUT 20,000 GENES

43
HUMAN GENOME PROJECT
  • RESEARCH GROUPS AROUND THE WORLD ARE ANALYZING
    INFORMATION IN THE DNA SEQUENCE LOOKING FOR
    GENES THAT MAY PROVIDE CLUES TO THE PROPERTIES OF
    LIFE
  • UNDERSTANDING THEIR STRUCTURE MAY BE USEFUL IN
    DEVELOPING NEW DRUGS AND TREATMENTS FOR DISEASES

44
GENE THERAPY
  • GENE THERAPY WHEN AN ABSENT OR FAULTY GENE IS
    REPLACED BY A NORMAL FUNCTIONING GENE
  • FIRST USED IN 1990
  • IN 1999, CELLS FROM A YOUNG GIRL WERE REMOVED,
    MODIFIED IN A LAB, AND INSERTED BACK IN THE BODY
    - CURED
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