Help
Options
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't Know
Remaining cards (0)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Genetic Diseases
| Term | Definition |
|---|---|
| Achondroplasia | Model: Autosomal Dominant Gene/Chromosome: FGFR3 mutation (gain of function) 80% de novo Phenotype/Symptoms: Most common form of Dwarfism Homozygous Dominants do not survive |
| Marfan syndrome | Model: Autosomal Dominant Gene/Chromosome: FBN1 mutations Phenotype/Symptoms: fibrous CT issues a increased height, scoliosis, CV complications, arachnodactyly |
| Neurofibromatosis | Model: Autosomal Dominant Gene/Chromosome: large gene - NF1 Chromosome 17 - NF2 Chromosome 22 Phenotype/Symptoms: Benign fleshy tumors, irregular skin lesions, Lisch nodules on iris, NF2 has bilateral hearing loss |
| Osteogenesis imperfecta | Model: Autosomal Dominant Gene/Chromosome: COLA1, COLA2 à type 1 collagen issues Phenotype/Symptoms: skeletal weakness, broken bones |
| Huntington’s Disease | Model: Autosomal Dominant Gene/Chromosome: Huntingtin (expansion of CAG repeats on CH 4) Phenotype/Symptoms: death of brain cells, nervous degeneration, dementia, symptoms start between 30-50, involuntary movements, drunken gait |
| Myotonic dystrophy (DM1) | Model: Autosomal Dominant Gene/chromosome: CTG expansion of DMPK gene (w/ pleiotropy) Phenotype/symptoms: prolonged muscle contraction, muscle weakness and wasting, cardiac condition probs Has second type DM2 (milder) Genetic Test: PCR |
| Becker Muscular Dystrophy | Model: X-Linked Recessive (lethal in males) Gene/Chromosome: Dystrophin - Why? Mutation maintains reading frame Phenotype/Symptoms: DMD but milder, can walk till 16 |
| Duchenne muscular dystrophy | Model: X-Linked Recessive (lethal in males) Gene/Chromosome: Dystrophin 1/3 de novo, 2/3 from mother Phenotype/Symptoms: muscle weakness, calf hypertrophy Hits around 2-3 yo |
| Lesch Nyhan | Model: X-Linked Recessive Gene/Chromosome: HGPRT defect/deletion. Issues with purine salvage. Buildup of rudimentary purines -> excess uric acid. Phenotype/Symptoms: “HGPRT” - Hyperuricemia, Gout, Pissed off, mental Retardation, DysTonia. |
| Rett Syndrome | Model: X-Linked Dominant, but 99% de novo Gene/Chromosome: MECP2 on X chromosome Phenotype/Symptoms: grey matter damage, wringing of hands, almost exclusively female |
| Fragile X Syndrome | Model: X-Linked Dominant Gene/Chromosome: FMR1 gene (CGG trinutide expansion repeats) Phenotype/Symptoms: autism like syndrome, long face and protruding ears, retardation, giant testicles Genetic test: methyl specific PCR in m, Southern Blot in fm |
| Prader-Willi Syndrome | Model: de novo Gene/Chromosome: deletion in the paternal chromosome 15q Phenotype/Symptoms: intellectual disability, extreme obesity, small hands, small genitals, hypotonic and failure to eat as infant Displays Maternal Imprinting |
| Angelman Syndrome | Model: de novo Gene/Chromosome: deletion in the maternal chromosome 15q Phenotype/Symptoms: epilepsy, microcephaly, appear happy Displays Paternal Imprinting |
| Cri du Chat | Model: de novo Gene/Chromosome: Deletion 5p deletion Phenotype/Symptoms: Cardiac defects and “kitten-like” crying, retardation, microcephly |
| Patau Syndrome | Model: de novo Gene/Chromosome: Trisomy 13 (or Robertsonian translocation) Phenotype/Symptoms: rocker bottom feet, retardation, cardiac defects, abdominal defects, small or absent eyes, polydactyly, microcephaly, most rare and fatal of trisomy |
| Edwards Syndrome | Model: de novo Gene/Chromosome: Trisomy 18 Phenotype/Symptoms: slow growth and low birth weight, rocker bottom feet, retardation, cardiac defects, abdominal defects, clenching fists, overlapping fingers, cone shaped head, unlikely to live p first year |
| Down Syndrome | Model: de novo Gene/Chromosome: Trisomy 21 (translocation possible) Phenotype/Symptoms: most common, mental retardation, digestive issues, early onset alzheimer's |
| Klinefelter's Syndrome | Model: de novo Gene/Chromosome: usually 47, XXY Phenotype/Symptoms: affects male cognitive development, small testes, micropenis, low T levels, affected individuals taller as adults |
| Turner’s Syndrome | Model: de novo Gene/Chromosome: 45, X Phenotype/Symptoms: affects female, short stature by age 5, eggs cells die prematurely, webbed neck, CV deformity |
| Cystic Fibrosis | Model: Autosomal Recessive Gene/Chromosome: CFTR on Chromosome 7 most common is ΔF508 Phenotype/Symptoms: Cl- channels affected, more mucus buildup, sterile males (no vas defrons), limited fertility in females, malnutrition |
| Phenylketonuria (PKU) | Model: Autosomal Recessive Gene/Chromosome: PAH (phy hydroxylase coding gene) This gene usually converts Phy to Tyr Phenotype/Symptoms: Phenylalanine accumulates à mental retardation Allelic Heterogeneity, compound heterozygotes, locus heterogeneity |
| Friedrich’s Ataxia | Model: Autosomal Recessive Gene/Chromosome: FXN gene (GAA triplet repeat expansion on INTRON ) on CH 9 Phenotype/Symptoms: degenerative nervous disease, no cognitive impairment |
| Tay-Sachs | Model: Autosomal Recessive Gene/Chromosome: HEXA gene (beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside), Ashkenazi Jews Phenotype/Symptoms: neurodegeneration, death by age 4 most common, late onset possible |
| Sickle-Cell Anemia | Model: Autosomal Recessive Gene/Chromosome: HbS gene Phenotype/Symptoms: Sickling in RBC |
| Hemophilia A | Model: X-Linked Recessive Gene/Chromosome: Factor VIII Gene deletion Phenotype/Symptoms: Blood can't clot |
| DiGeorge Syndrome | Model: de novo Gene/Chromosome: Microdeletion of 22q (COMT & TBX1) Phenotype/Symptoms: Poor development of several body systems, congenital heart defects, specific facial features. |
| Wolf-Hirschhorn Syndrome | Model: de novo Gene/Chromosome: 4p deletion Phenotype/Symptoms: cleft lip, weird eyes |
| Chronic Myelogenous Leukemia (CML) | Model: de novo Gene/Chromosome: BCR-ABL Fusion protein from translocation between 9q and 22q Phenotype/Symptoms: Blood cell cancer that begins in the bone marrow. |
| Hereditary non-polyposis colon cancer (HNPCC) | Model: Autosomal Dominant Gene/Chromosome: various genes that effect Phenotype/Symptoms: Higher chance for colon cancer. |
| BRCA-1&2 Breast Cancer | Model: Autosmal Dominant Gene/Chromosome: BRCA-1&2 Phenotype/Symptoms: Increased chance for breast and ovarian cancer. |
| Xeroderma Pigmentosum | Model: Autosomal Recessive Gene/Chromosome: Various that effect ability to repair DNA damage due to UV radiation Phenotype/Symptoms: Extreme sensitivity to sum |
Created by:
deleted user
Popular Genetics sets