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AP Biology

Heredity - Genetic Defect Table

Genetic DefectPattern of InhereritanceDescription 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.
Sicle-cell anemia autosomal recessive Adnormal hemoglobin. Red blood cells of individuals with this defect are unable to effectively transport oxygen throughout the body.
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.
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.
Hemophilia sex-linked recessive Inability to code for a clotting factor required to form norm blood clots.
Red-green color blindness sex-linked recessive Inability to distiguish red from green.
Duchenne's muscular sex-linked dominant Absence of an essential muscle protein. Results in dystrophy deteriorating muscles and loss of coordination.
Down syndrome nondisjunction of chromosome 21 Trisomy 21 (three copies of chromosome 21). Physical abnomalities, mental retardation.
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.
Klinefelter syndrome nondisjunction of sex chromosomes XXY and male. Union of XX gamete and normal Y gamete. Sterile and often mentally retarded.
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").
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.
Albinism autosomal recessive Homosygous individuals have no pigment in skin, hair, and eyes.
Achondroplasia dwarfism autosomal dominant a mutation in gene 3 that causes an abnormality of cartilage formation which leads to severely shortened bones.
Created by: crescenti
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