Chapter 11 -1Complex Inheritance

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    Chapter 11 Complex Inheritance

    Section 11-1

    Bio30

    NWRC

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    Section 11-1 Recessive Genetic

    Disorders

    Two copies of the gene must be mutated for a

    person to be affected by a recessive disorder.

    An affected person usually has unaffected

    parents who each carry a single copy of themutated gene (and are referred to as carriers).

    Two unaffected people who each carry one

    copy of the mutated gene have a 25% chance

    with each pregnancy of having a child affectedby the disorder

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    Autosomal Recessive Disorders

    Both parents are carriers

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    Autosomal Recessive Disorders

    One parent is a carrier one is normal

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    Autosomal Recessive Disorders

    One parent has condition one is normal

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    Recessive Disorders

    Cystic fibrosis (CF) is caused by adefect in a gene called the cysticfibrosis transmembraneconductance regulator (CFTR) gene.This gene makes a protein thatcontrols the movement of salt andwater in and out of the cells in yourbody. In people with CF, the genedoes not work effectively. Thiscauses the thick, sticky mucus andvery salty sweat that are the mainfeatures of CF. Each of us inheritstwo CFTR genes, one from eachparent.

    Children who inherit an abnormalCFTR gene from each parent willhave CF.

    Children who inherit an abnormalCFTR gene from one parent and anormal CFTR gene from the otherparent will not have CF. They will be

    CF carriers.

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    Recessive Disorders

    AlbinismThe word "albinism"refers to a group of inheritedconditions. People with albinismhave little or no pigment in theireyes, skin, or hair. They haveinherited genes that do not makethe usual amounts of a pigmentcalled melanin.

    Albinism affects people from allraces. Most children with albinismare born to parents who havenormal hair and eye colour for theirparticular ethnic backgrounds.

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    Recessive Disorders- galactosemia

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    Recessive Disorders- Tay Sachs

    Disease Tay-Sachs disease is a rare inherited

    disorder that causes progressivedestruction of nerve cells in the brainand spinal cord (the central nervoussystem).

    The most common form of Tay-Sachsdisease begins in infancy. Infants with

    this disorder typically appear normaluntil the age of 3 to 6 months, whendevelopment slows and muscles usedfor movement weaken. Affectedinfants lose motor skills such asturning over, sitting, and crawling.They also develop an exaggeratedstartle reaction to loud noises. As thedisease progresses, children with Tay-Sachs disease experience seizures,vision and hearing loss, mentalretardation, and paralysis.

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    Dominant Genetic Disorders

    Only one mutated copy of the gene is

    needed for a person to be affected by an

    dominant disorder. Each affected person

    usually has one affected parent. There is a50% chance that a child will inherit the

    mutated gene.

    There are no carriers

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    Dominant Genetic Disorders

    One parent has condition and the other

    does not

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    Dominant Genetic Disorders

    Both parents have a condition

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    Pedigree Charts (link to

    pedigree analysis)

    http://www.youtube.com/watch?v=HbIHjsn5cHohttp://www.youtube.com/watch?v=HbIHjsn5cHo
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    Assessment

    1.

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    2.

    Huntingtons (nervoussystem disorder)and

    Achondoplasia(dwarfism) are bothDominant

    The affected parent has asingle defective gene (D),which dominates its normal

    counterpart (n). Each child hasa 50 percent risk of inheritingthe faulty gene and thedisorder.

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    3.

    They cannot since albinos would only

    have recessive alleles.

    Heres an albino squirrel

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    4.

    tt

    Tt