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Heredity - Genetic Defect Table

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Genetic Defect
Pattern of Inhereritance
Description of Defect
Phenylketonuria (PKU)   autosomal recessive   Inability to properly break down the amino acid-phenylalanine. Accumulation of phenylalanine in untreated children causes mental retardation. Symtoms can be avoided with diets low in phenylalanine.  
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Sicle-cell anemia   autosomal recessive   Adnormal hemoglobin. Red blood cells of individuals with this defect are unable to effectively transport oxygen throughout the body.  
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Tay-Sachs disease   autosomal recessive   Inability to properly break down certain lipids. Accumulation of the lipids in brain cells causes progressive nervous system dysfunction and is usually fatal by age four.  
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Huntington's disease   autosomal dominant   Expression begins in middle age with mild mental illness and loss of motor control progressing to total physical and mental incapabiltiy.  
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Hemophilia   sex-linked recessive   Inability to code for a clotting factor required to form norm blood clots.  
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Red-green color blindness   sex-linked recessive   Inability to distiguish red from green.  
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Duchenne's muscular   sex-linked dominant   Absence of an essential muscle protein. Results in dystrophy deteriorating muscles and loss of coordination.  
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Down syndrome   nondisjunction of chromosome 21   Trisomy 21 (three copies of chromosome 21). Physical abnomalities, mental retardation.  
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Turner syndrome   nondisjunction of sex chromosomes   XO and female. Union of a gamete missing the sex chromosome with a normal egg or sperm bearing an X chromosome.  
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Klinefelter syndrome   nondisjunction of sex chromosomes   XXY and male. Union of XX gamete and normal Y gamete. Sterile and often mentally retarded.  
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Cri du chat syndrome   deletion in chromosome 5   Physical and mental retardation and catlike cry (cri du chat is French for "cry of the cat").  
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Cystic Fibrosis   autosomal recessive   Ineffective component of Na/Cl pump. Mutant gene affects glands that produce of mucus. Mucus builds up around organs. Average life span is 24 years.  
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Albinism   autosomal recessive   Homosygous individuals have no pigment in skin, hair, and eyes.  
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Achondroplasia dwarfism   autosomal dominant   a mutation in gene 3 that causes an abnormality of cartilage formation which leads to severely shortened bones.  
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