-
Huntington's Disease
- Autosomal Dominant
- "Woodie Guthrie Disease"
- Progressive Involuntary twitching, personality Change, Dementia and Death
- Mutant Gene has undergone a trinucleotide repeat
- Age of onset = 40 yrs
- Very uncommon 1 / 20,000
-
Osteogenesis Imperfecta
- Autosomal Dominant
- Type I Collagen Disorder
- Brittle done disease
- Short Stature, malformed bones, loose joints, blue sclera, opalescent teeth
- Type I is most common**
- Very Uncommon 1 / 20,000
-
Neurofibromatosis Type 1
- Autosomal Dominant - Von Recklinghausen Dz
- Tumor Growth Along nerves
- Multiple neurofibromas
- 1 / 3000
-
Achondroplasia
- Autosomal Dominant
- NON - Proportional Dwarfism
- New mutation accounts for roughly 75% of all Cases
- Uncommon 1/ 15,000 to 40,000
-
Marfan Syndrome
- Autosomal Dominant
- Tall persons with disproportionally long limbs
- Arachnodactyly
- Subluxation of the eye lens
- Cardiovasc. Defects
- Uncommon 1/5000
-
Polycystic Kidney Dz
- Autosomal Dominant
- Multiple Cysts in the kidneys
- ADPKD
- Common 1/500
-
Phenylketonuria (PKU)
- Autosomal Recessive
- Amino Acid Metabolism Disorder
- Accum. of Phenylalanine
- Severe mental retardation
- hypo-pigmentation
- unsual musty odor
- Uncommon 1 / 15,000
-
Albinism
- Autosomal Recessive
- Amino Acid Metabolism Disorder
- Deficiency of Melanin
- Uncommon 1/ 40,000
-
Tay-Sachs Disease
- Autosomal Recessive
- Disorder of Lipid Metabolism
- Results in ganglioside accum. of semi-degraded myelin in the lysosomes of neurons
- Uncommon to rare, Depends upon population (Jews)
- 1 / 3500 w/in jews
- 1 / 350,000 o/s
-
Cystic Fibrosis
- Autosomal Recessive
- Disorder of Chloride Transport across cell membrane
- Exocrine Gland secretion Difficulties
- Very Salty Sweat
- Thick mucous secreations --> Bacterial Growth
- Block of biliary tract
- poor digestion
- pancreatic insufficiency
- RESPIRATORY INFECTIONS
- NOT UNcommon 1 / 2500
-
Familial Hypercholesterolemia
- Autosomal co-dominant
- Disorder of High Serum Cholesterol (LDL)
- LDL Recepter Disease
- 2 forms:
- Mild Form 1 / 500 - Heterozygotes
- 250 - 500 mg/dl, risk of M.I. Elevated
- by age 60 M.I. Seen in 85% M and 50%F
- Severe Form (rare) 1 / 1,000,000 - Homozygous Recessive
- 500 - 1000 mg/ dl
- M.I. by age 20
-
Sickle Cell Anemia
- Autosomal Co-Dominant
- Disorder of abnormal hemoglobin (Beta - Globin)
- Homozygous Recessive = Classic Dz
- Heterozygotes = normal w/ "sickle - cell trait"
- More common among person of african and mediterranean descent
- 1/12 African Americans = sickle cell trait
-
Klinefelter's Syndrome
- Testicular Hyalinanzation
- Sex Chromosome Anueploidy 47, XXY Karyotype
- Sterile
- Tall/ Lanky
- Gynecomastia
- Not Uncommon 1/ 500 males
-
Turner's Syndrome
- Gonadal Dysgenesis
- Sex Chromosome Aneuploidy, 45, XO Karotype
- Females
- Sterile
- Broad/ "Shield" Chest
- Webbed Neck
- Somewhat uncommon 1/ 2500
- Make up about 10% of spontaneous abortions
-
Holandric Genes
Genes that reside on the Y Chromosome
-
Seeing as males have only one X Chromosome they are said to be....?
Hemizygous
-
Hemophilia "A"
- X-Linked Recessive
- Missing blood clotting factor VIII
- Very uncommon 1/ 8000 Males
- Results in Bleeding
-
Common Colorblindness
- X-Linked Recessive
- Altered color vision (Red - Green confusion)
- Cery Common (1 / 12 Males)
-
Duchenne-Type Muscular Dystrophy
- X-Linked Recessive
- Progressive Muscle Weakness
- Uncommon 1/ 4000 males
-
Fragile X Syndrome
- X-Linked Recessive
- Mental Retardation
- THE MOST COMMON UNHERITABLE MENTAL IMPAIRMENT
- Not uncommon 1/ 1000 males, 1/ 2500 females
-
Male Pattern Baldness
- X-Linked Recessive
- Androgenic Alopecia
- Pattern of hair loss in males due to androgen hormone
- Very Common 33% 25 - 40 y/o, 66% 50 - 80 y/o
-
Hemochromatosis
- Autosomal Recessive
- high Serum iron content
- malaise, liver cirrhosis
- bronzing of skin
- cardiomyopathy
- Common 1/ 400
- Seen mostly in males (Sex - Influenced)
- Females are naturally treated once a month with mences
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