Diseases Altogether Flashcards
Swyer syndrome/ 46, XY gonadal dysgenesis gene
SRY gene
Huntington Disease inheritance
Autosomal dominant
Tay-Sachs mutation
- Point mutation G to C = alternate splicing
2. 4 bp insertion = frameshift = nonsense
Retinoblastoma mutation
Need second mutation for disease, 90% penetrance
Hemophilia B inheritance
X-linked recessive
Osteogenesis imperfecta symptoms
- Brittle bones
2. Heterogeneity
Tay-Sachs gene
Hex-A gene
Hereditary Hemochromatosis gene
HFE (high iron)
Osteogenesis imperfecta gene
Col1A1 gene on chromosome 17 and col1A2 gene on chromosome 7
Xerderma Pigmentosum inheritance
Autosomal recessive
Angelman mutation
Deletion on maternal chromosome 15 + silence on paternal chromosome (imprinting)
Marfan syndrome gene
Fibrillin (FBN-1)
Ehlers-Danlos symptoms
Facial elasticity
Phenylketonuria symptoms
- Intellectual disabilities
- Seizures
- Tremors
- Hyperactivity
- Stunted growth
Li-Fraumeni syndrome symptoms
90% chance of developing cancer of any type
Rhett syndrome inheritance
X-linked dominant
Hurler syndrome gene
A-L-iduronidase (A= alpha)
Familial breast cancer mutation
Loss of function
Phenylketonuria inheritance
Autosomal recessive
Hypohydrotic ectodermal dysplasia symptoms
- Abnormal development of nails, hair, and sweat glands
2. Males have a reduced ability to sweat
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome inheritance
Autosomal dominant
Osteogenesis Imperfecta inheritance
Autosomal dominant
Retinoblastoma inheritance
Autosomal dominant
Marfan syndrome mutation
Pleiotropic
Achondroplasia mutation
Point mutation G to A = missense, gain of function
46, XX testicular disorder of sex development mutation
Translocation of SRY gene onto x-chromosome
Fragile X mutation
CGG repeat expansion in promoter region, “anticipation”
Becker muscular dystrophy gene
Dystrophin
Sickle Cell disease gene
B-globin protein
Swyer syndrome/ 46, XY gonadal dysgenesis symptoms
- Genotype male develops female
2. Fertility and sex characteristic problems
46, XX testicular disorder of sex development symptoms
Individuals develop as males
Huntington Disease symptoms
- Progressive dementia
- Choleric movements
- Delayed onset
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis inheritance
Y-linked
Prader-Willi symptoms
- Short stature
- Hypotonia
- Small hands and feet
- Obesity
- Hypogonadism
- Mild to moderate mental retardation
Achondroplasia inheritance
Autosomal dominant
Duchenne Muscular Dystrophy inheritance
X-linked recessive
Neurofibromatosis inheritance
Autosomal dominant
Myotonic dystrophy gene
Myotonic dystrophy protein kinase (DMPK)
Charcot Marie Tooth symptoms
- Neurological disorder
2. Progressive atrophy of distal limbs
Prader-Willi gene
SNRPN gene
Angelman symptoms
- Severe mental retardation
- Seizures
- Ataxic gait
- Characteristic stance
Myotonic dystrophy mutation
Expansion of trinucleotide repeat (CIG) in 3’ untranslated portion of gene
Hereditary hemochromatosis mutation
Missense
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome symptoms
- 90% will develop cancer
2. Adenoma to carcinoma development = 2/3 years (normal is 8/10 years)
Retinoblastoma symptoms
Formation of retinoblastoma
A-thalassemia mutation
Aberrant recombination = large deletion
B-thalassemia symptoms
Decreased production of B-globin
Becker Muscular dystrophy mutation
Large in-frame deletion
Hemophilia B gene
Factor IX gene
Retinoblastoma gene
Retinoblastoma-1 (RB-1)
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis gene
SHOX gene
B-thalassemia mutation
Many types of point mutation = missense or nonsense
A thalassemia symptoms
- Misaligned chromosomes
2. Anemia
Sickle Cell disease inheritance
Autosomal recessive
Lesch-Nyhan inheritance
X-linked recessive
Hurler syndrome inheritance
Autosomal recessive
Duchenne Muscular Dystrophy mutation
Small frame shift deletion
B-thalassemia inheritance
Autosomal recessive
Familial Hypercholesterolemia symptoms
- Elevated LDL
- Heart disease
- Xanthomatas
- Variable severity homo versus heterozygous
Rhett syndrome symptoms
- Autistic behaviors
- Hand wringing
- Intellectual disabilities
- Seizures
- Gait ataxia
- Heart rhythm and breathing abnormalities
- Skewed x-inactivation patterns
Achondroplasia symptoms
- Short-limbed dawrfism
2. Homozygotes do not survive infancy
Becker Muscular Dystrophy inheritance
X-linked recessive
Familial Hypercholesterolemia mutation
Loss of function
Lesch-Nyhan gene
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)
Tay-Sachs inheritance
Autosomal recessive
Swyer syndrome/ 46, XY gonadal dysgenesis inheritance
Y-linked
46, XX testicular disorder of sex development gene
SRY gene
Li-Fraumeni syndrome gene
TP53
Neurofibromatosis Type 1 mutation
Point mutation = nonsense
Hypohydrotic ectodermal dysplasia inheritance
X-linked recessive
Phenylketonuria gene
Phenylalanine hydroxylases (PAH)
Hereditary Hemochromatosis symptoms
- Accumulation of Fe in organs
- Cardiac failure
- Delayed onset
Familial breast cancer gene
BRCA 1 + BRCA 2
Hurler syndrome symptoms
- Progressive intellectual disabilities
- Skeletal abnormalities
- Short stature
- Corneal clouding
- Course facial features
Li-Fraumeni syndrome inheritance
Autosomal dominant
Becker Muscular Dystrophy symptoms
- Progressive weakness and muscle loss
2. High creatine levels
Angelman gene
UBE3A
Sickle Cell disease mutation
Point mutation A to T = missense
Tay-Sachs symptoms
- Lysosomal storage disorder
2. Neuron damage
Neurofibromatosis gene
Neurofibromin-1 (NF-1)
46, XX testicular disorder of sex development inheritance
Y-linked
Fragile X syndrome gene
FMR1 + FMRP
Neurofibromatosis symptoms
- Cafe au last spots
- Neurofibromas
- Lisch nodules (eye)
- Learning disabilities
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis symptoms
Bone growth disorder
Hereditary Hemochromatosis inheritance
Autosomal recessive
Ehlers-Danlos inheritance
Autosomal dominant
Familial hypercholesterolemia gene
LDL receptor
Achondroplasia gene
Fibroblast growth factor receptor gene (FGFR-3)
Huntington Disease mutation
Trinucleotide repeat expansion
Huntington Disease gene
Huntingtin HD
Fragile X symptoms
- Intellectual disability
- Distinct facial appearance
- More common in males
Prader-Willi mutation
Deletion on paternal chromosome 15 + silence on maternal chromosome (imprinting)
Hemophilia B mutation
Point mutation A to G
Rhett syndrome gene
Methyl-CpG binding protein 2 (MeCP2)
Fragile X syndrome inheritance
X-linked dominant
Marfan syndrome inheritance
Autosomal dominant
Ehlers-Danlos gene
Collagen proteins
Familial Hypercholestemia inheritance
Autosomal dominant
Marfan syndrome symptoms
- Tall stature
- Arachnodactyly
- Cardio vascular problems
- Variable severity
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome gene
MSH2 + MLH1
Lesch-Nyhan symptoms
- Premature gout
- Kidney stones
- Decreased dopamine
- Low IQ
- Spastic cerebral palsy
- Dystonia
- Self-mutilation
- Aggressive behavior
Duchenne Muscular Dystrophy symptoms
- Progressive weakness and muscle loss
- High creatine levels
- Growers signs
- Female mosaicism
A- thalassemia gene
A-globin gene
Duchenne Muscular Dystrophy gene
Dystrophin
Myotonic dystrophy inheritance
“Anticipation”
Xerderma Pigmentosum symptoms
- 1000 x more likely to develop skin cancer
B-thalassemia gene
B-globin gene
Charcot-Marie Tooth gene
PMP 22
Charcot Marie Tooth mutation
Misalignment in recombination = large insertion of 1.5 million bp