Compendium Genetics 3.0-3.1, Autosomal Recessive Dis

Front 1

autosomal dominant

Back 1

never skips a generation

Front 2

x linked dominant

Back 2

never skips a generation, no male to male transmision

rare;
hyperphsphatemic ricktes:inherited vitamin D resistance, bowed legs

incontinentia pigmenti: mini teeth and patchy alopecia

Front 3

autosomal recessive

Back 3

variable

Front 4

x linked recessive

Back 4

no male to male

Front 5

steps for genetics pedigree

Back 5

1: are any generations skipped
2: is there any male to male transmission

Front 6

de novo mutation

Back 6

parents are healthyn but one progeny undergoes mutation.

Front 7

mictochndrial inheritance

Back 7

transmitted by females to all of her children.
ex. leber's optic neuropathy (bilateral blindness with onset sometime after 15 years of age)

Front 8

cystic fibrosis

Back 8

most common lethal genetic dis of caucasians.
mutation in CFTR gene: characterized by a defect in chloride trans-membrane movemnet in epithelial cells
clinical:
meconium ileus
viscous mucus
recurrent respiratory infx (staph aureus in first 6 months of life, then pseudomonas auregin.)
high NaCl in sweat andtears (positive sweat test)
chronic pancreatitis
cholelithiasis
malnutrition( due to poor bowel function, steatorrhea, loss of fat soluble vitamins)

Front 9

phenylketonurua

Back 9

uanalbe to metabolize phenylalanain>buildup of phenylalanain breakdouwn produts (phenylketones), cant make melanin, NE, EPI, dopamine
phenylketones casue neurotoxicity
low melanin>lighter complexion

Front 10

albinism

Back 10

inabilty to make melanin

Front 11

alpha1 antitrypsin def

Back 11

inhibit elastase
liver makes elastase but cant release it from the cells>liver destrucion>cirrhosis
active elastase destroys lungs>emphysema

Front 12

thalassemaias, sickle cell aneam

Back 12

abnormally structured HgB>microcytic anemia, and rbc destruction

Front 13

glycogen storage diz

Back 13

von Gierke diz (deficiency of glucose 6 phosphatase), pompe diz (deficiency of the lysosomal acid alpha-glucosidase enzyme), McArdle diz (deficiney of myophosphorylase)

Front 14

Mucopolysaccharidoses

Back 14

lysosomal storage diz
unable to metabolize GAGs,
hurler: AR, deficiency of alpha-L iduronidase
scheie: AR,
hunter (xlinked): deficient (or absent) enzyme, iduronate-2-sulfatase
gargoyle like features

Front 15

sphingolipidoses

Back 15

unable to metabolze sphinogolipids (involved wiht myelin and CNS)
Niemann pick: AR, sphingomyelinase def.
Krabbe's: AR, galactocerebrosidase def.
Gaucher's: AR: glucocerebrosidase def
Tay-Sachs: AR, hexosaminidase def.
metachromatic dystrophy: AR, arylsulfatase A or prosposin
Fabry(x linked recessive)

Front 16

polycystic kidney diz (infant type)

Back 16

kidney cysts, liver cysts in infant;fatal, liver fibrosis

Front 17

hemochromatosis

Back 17

small intestine (duodenum) takes up excessive iron even wiht normal diet.
excess iron deposits in liver,pancreas, heart, and skin. - result in cirrhosis, new onset of type 1 like DM, cardiomyopathy (CHF), bronze colored skin
Bronze diabetes

Front 18

chediak-Higashi syndrome

Back 18

wbc have abnormal microtubles (so faulty cell movement, lysosomal fusion, and non-functional granules)
clinical findings:
recurrent infxn
development of lymphoid cancers
partial albinism
neuropathy

Front 19

bernard soulier dis

Back 19

results in excessive bleeding
due to lack of GPIb (needed for plateley adhesion to VWF)

Front 20

Glanzmann thromasthenia

Back 20

excessive bleeding
lack of GP11B/IIIA (needed for platelet aggregation)