Chromosomal Inheritance Chromosomal Division for Sperm and Egg Production Chromosomal Abnormalities.
THE CHROMOSOMAL BASIS OF INHERITANCE. YOU MUST KNOW… HOW THE CHROMOSOME THEORY OF INHERITANCE...
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Transcript of THE CHROMOSOMAL BASIS OF INHERITANCE. YOU MUST KNOW… HOW THE CHROMOSOME THEORY OF INHERITANCE...
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THE CHROMOSOMAL
BASIS OF INHERITANCE
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YOU MUST KNOW…• HOW THE CHROMOSOME THEORY OF
INHERITANCE CONNECTS THE PHYSICAL MOVEMENT OF CHROMOSOMES IN MEIOSIS TO MENDEL’S LAWS OF INHERITANCE
• THE UNIQUE PATTERN OF INHERITANCE IN SEX-LINKED GENES
• HOW ALTERATION OF CHROMOSOME NUMBER OR STRUCTURALLY ALTERED CHROMOMES (DELETION, DUPLICATIONS, ETC.) CAN CAUSE GENETIC DISORDERS
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CONCEPT 15.1• MENDELIAN INHERITANCE HAS
ITS PHYSICAL BASIS IN THE BEHAVIOR OF CHROMOSOMES
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CHROMOSOME THEORY OF INHERITANCE
• STATES THAT GENES HAVE SPECIFIC LOCATIONS (LOCI) ON CHROMOSOMES AND THAT IT IS CHROMOSOMES THAT SEGREGATE AND
ASSORT
INDEPENDENTLY• SEX-LINKED GENE –
LOCATED ON A
SEX CHROMOSOME
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CONCEPT 15.2• SEX-LINKED GENES EXHIBIT
UNIQUE PATTERNS
OF INHERITANCE
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SEX-LINKED GENES• LOCATED ON THE X CHROMOSOME• SEX IS DETERMINED BY THE MALE SPERM
CELL• FATHERS PASS SEX-LINKED GENES ON TO
THEIR DAUGHTER BUT NOT TO THEIR SONS• FEMALES WILL EXPRESS A SEX-LINKED
TRAIT LIKE ANY OTHER TRAIT BUT MALES WITH ONLY ONE X CHROMOSOME, WILL EXPRESS THE ALLELE ON THE X CHROMOSOME THEY INHERITED FROM THEIR MOTHER
• THE VAST MAJORITY OF GENES ON THE X CHROMOSOME ARE NOT RELATED TO SEX
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SEX-LINKED DISORDERS• DUCHENNE MUSCULAR DYSTROPHY
– PROGRESSIVE WEAKING OF THE MUSCLES AND LOSS OF COORDINATION, RARELY LIVE PAST THEIR EARLY 20’S
• HEMOPHILIA – BLOOD WITH AN INABILITY TO CLOT NORMALLY, CAUSED BY THE ABSENCE OF PROTEINS REQUIRED FOR BLOOD CLOTTING
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• X-INACTIVATION – REGULATES GENE DOSAGE IN FEMALES
• ONE OF THE X CHROMOSOMES IN EACH CELL OF THE BODY BECOMES INACTIVATED DURING EMBRYONIC DEVELOPMENT BY METHYLATION
• MALES AND FEMALES HAVE THE SAME EFFECTIVE DOSE OF GENES WITH LOCI ON THE X CHROMOSOME
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• THE INACTIVE CHROMOSOME CONDENSES INTO A BARR BODY WHICH LIES ALONG THE INSIDE OF THE NUCLEAR ENVELOPE
• FEMALES ARE NOT AFFECTED AS HETEROZYGOTE CARRIERS OF PROBLEMATIC ALLELES BECAUSE HALF OF THEIR SEX CHROMOSOMES ARE NORMAL AND PRODUCE THE NECESSARY PROTEINS
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CONCEPT 15.3• LINKED GENES TEND TO BE
INHERITED TOGETHER BECAUSE THEY ARE LOCATED NEAR EACH OTHER ON THE SAME CHROMOSOME
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• LINKED GENES ARE LOCATED ON THE SAME CHROMOSOME AND THEREFORE TEND TO BE INHERITED TOGETHER DURING CELL DIVISION
• GENETIC RECOMBINATION IS THE PRODUCTION OF OFFSPRING WITH A NEW COMBINATION OF GENES INHERITED FROM THE PARENTS
• SAME PHENOTYPE AS ONE OF THE PARENTS (PARENT TYPES)
• DIFFERENT PHENOTYPE THAN PARENTS (RECOMBINANTS)
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• CROSSING OVER – CAN EXPLAIN WHY SOME LINKED GENES GET SEPARATED DURING MEIOSIS
• DURING MEIOSIS UNLINKED GENES FOLLOW INDEPENDENT ASSORTMENT BECAUSE THEY ARE LOCATED ON DIFFERENT CHROMOSOMES
• LINKED GENES ARE LOCATED ON THE SAME CHROMOSOME AND WOULD NOT BE PREDICTED TO FOLLOW INDEPENDENT ASSORTMENT
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• LINKAGE MAP – GENETIC MAP THAT IS BASED ON THE % OF CROSS-OVER EVENTS
• MAP UNIT – IS EQUAL TO A 1% RECOMBINATION FREQUENCY, USED TO EXPRESS RELATIVE DISTANCES ALONG THE CHROMOSOME
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CONCEPT 15.4• ALTERATIONS OF CHROMOSOME
NUMBER OR STRUCTURE CAUSE SOME GENETIC DISORDERS
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NONDISJUNCTION• OCCURS WHEN THE MEMBERS OF A
PAIR OF HOMOLOGOUS CHROMOSOMES DOES NOT SEPARATE PROPERLY
DURING MEIOSIS I OR SISTER CHROMATIDS DON’T SEPARATE PROPERLY DURING MEIOSIS II
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• ONE GAMETE RECEIVES TWO COPIES OF THE CHROMOSOME WHILE THE OTHER GAMETE RECEIVE NONE
• IF THE FAULTY GAMETES ENGAGE IN FERTILIZATION, THE OFFSPRING WILL HAVE AN INCORRECT CHROMOSOME NUMBER KNOWN AS ANEUPLOIDY
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• TRISOMY – FERTILIZED EGG RECEIVES 3 COPIES OF THE CHROMOSOME (trisomy 21, 18, 13)
• MONOSOMY – FERTILIZED EGG RECEIVES ONLY ONE COPY OF A CHROMOSOME
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• POLYPLOIDY – CONDITION OF HAVING MORE THAN TWO COMPLETE SETS OF CHROMOSOMES, FORMING A 3n OR 4n INDIVIDUAL
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MUTATIONS• DELETION – WHEN A CHROMOSOMAL
FRAGMENT IS LOST (MISSING GENES)• DUPLICATION – WHEN A
CHROMOSOMAL FRAGMENT THAT BROKE OFF BECOMES ATTACHED TO ITS SISTER CHROMATID (ZYGOTE GETS A DOUBLE DOSE OF THE GENES)
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MUTATIONS• INVERSION – WHEN A CHROMOSOME
FRAGMENT BREAKS OFF AND REATTACHED TO ITS ORIGINAL POSITION BUT BACKWARD
• TRANSLOCATION – WHEN A DELETED CHROMOSOME FRAGMENT JOINS A NONHOMOLOGOUS CHROMOSOME
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• DOWN SYNDROME – TRISOMY 21 – CHARACTERISTIC FACIAL FEATURES, SHORT STATURE, HEART DEFECTS, MENTAL RETARDATION
• KLINEFELTER SYNDROME – XXY – HAVE MALE SEX ORGANS BUT ARE STERILE
• TURNER SYNDROME – X – FEMALES ARE STERILE BECAUSE REPRODUCTIVE ORGANS DON’T MATURE
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