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Genetics
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review
Albinism
0 / 11 complete
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Laboratory Value | Result |
Hemoglobin | 15.6 g/dL |
Hematocrit | 47% |
Leukocytes | 7,200/mm3 |
Platelets | 190,000/mm3 |
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catecholamine synthesis p. 81
locus heterogeneity p. 55
ocular p. 59
albinism and p. 488
Samantha McBundy, MFA, CMI
Evan Debevec-McKenney
Albinism, meaning white, is a non-contagious, congenital condition that is defined by a drastic reduction or complete lack of pigmentation in the hair, skin and eyes.
Albinism is often portrayed negatively, like Silas the antagonist in the book “The Da Vinci Code”, which contributes to his diminished quality of life with the disease.
The skin is divided into three layers--the epidermis, dermis, and hypodermis.
The hypodermis is made of fat and connective tissue that anchors the skin to the underlying muscle.
Just above is the dermis, which contains hair follicles, nerves and blood vessels.
And just above, the outermost layer of skin, is the epidermis.
The epidermis itself has multiple cell layers that are mostly keratinocytes - which are named for the keratin protein that they’re filled with.
Keratin is a strong, fibrous protein that allows keratinocytes to protect themselves from getting destroyed when you rub your hands through the sand at the beach.
Keratinocytes start their life at the deepest layer of the epidermis called the stratum basale, or basal layer, which is made of a single layer of small, cuboidal to low columnar stem cells that continually divide and produce new keratinocytes that continue to mature as they migrate up through the epidermal layers.
But the stratum basale also contains another group of cells - melanocytes, which secrete a protein pigment, or coloring substance, called melanin.
Melanin is actually a broad term that constitutes several types of melanin found in people of differing skin color.
These subtypes of melanin range in color from black to reddish yellow and their relative quantity and rate at which they are metabolized define a person’s skin color.
When keratinocytes are exposed to the sun, they send a chemical signal to the melanocytes, which stimulates the melanocytes to produce melanin through a multistep enzymatic reaction that begins with tyrosine.
Once it’s made, the melanocytes move the melanin into small sacs called melanosomes, and these get taken up by newly formed keratinocytes, which will later metabolize the melanin as they migrate into higher layers of the epidermis.
Melanin then acts as a natural sunscreen, because its protein structure dissipates, or scatters, UVB light--which if left unchecked can damage the DNA in the skin cells and lead to skin cancer.
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