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28 Cards in this Set
- Front
- Back
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Are structural protein defects often dominant or recessive?
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- dominant
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What are the 5 functions of connective tissue
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1) define form of organs
2) mechanical stability 3) protective barrier 4) transduce chemical energy via tendons, bones, muscles 5) important in embryonic dvp |
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Type 1 collagen chain and distribution
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- 2 alpha 1 chains and 1 alpha 2 chain
- skin, tendon, bone ligament, cornea |
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Type 2 collagen chain and distribution
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- 3 alpha 1 chains
- cartilage, vitreous, intervertebral discs |
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Type 3 collagen chain and distribution
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- 3 alpha 1 chains
- gut, vessels, uterus, distensible tissues |
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Type 4 collagen chain and distribution
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- alpha 1 chains
- basement membranes, lens capsule |
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type 5 collagen chain and distribution
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- 2 alpha 1 chains and 1 alpha 2 chain
- widespread in small amts |
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Most types of OI have defect in?
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- type I collagen (either the alpha 1 chain or the alpha 2 chain)
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Discuss OI Type I
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- frequent fractures
- normal height - low deformity - 50% hearing loss - blue sclera - autosomal dominant via null allele for either alpha 1 or 2 chain so only 50% of type 1 collagen - mildest |
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Discuss OI Type II
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- most severe
- multiple fractures at birth, often lethal - new autosomal dominant |
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Discuss OI type III
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- progressively deforming
- short stature - hearing loss - may be confined to wheel chair - abnormal chest at risk for respiratory illness - autosomal dominant |
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Discuss OI type IV
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- severity between type 1 and III
- mild to moderate deformity - normal sclera - autosomal dominant |
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In OI type II, III, and IV point mutations cause what type of problems if they're in the alpha I chain? Alpha 2 chain?
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- 1:3 of normal to mutant collagen
- 1:1 of normal to mutant collagen |
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What are the 5 types of specific disorders discussed concerning Ehlers-Danlos syndrome?
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- classical
- hypermobile -vascular - X-linked - Kyphoscoliotic |
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Discuss Hypermobile EDS
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- marked hypermobility of joints and skin
- autosomal dominant - unknown defect |
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Discuss Classical EDS
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- hyperextensible skin
- hypermobile joints - cigarette paper scars - autosomal dominant - defect only have 50% of collagen V |
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Discuss vascular EDS
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- most severe
- autosomal dominant - live teens-early 20s - small arterials usually burst (arterial, bowel, uterine- no pregnancy!) - abnormal type III collagen (7 of 8 abnormal) - marked bruising |
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Discuss X-linked EDS
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- similar to hypermobile
-X-linked recessive - unknown defect |
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Discuss Kyphoscoliotic EDS
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- soft, velvety skin
- ocular fragility - autosomal recessive - lysyl hydroxylase deficiency (no cross linking) |
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What are the 4 Type II collagenopathies discussed?
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1) Achondrogenesis
2) Hypochondrogenesis 3) Spondylometaphyseal Dysplasia 4) Stickler syndrome |
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Discuss Achondrogenesis
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- most severe
- lethal, hydrops fetalis/polydramnios - deficient ossification - new dominant mutation - abnormal type II collagen so 7/8 collagen abnormal |
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Discuss Hypochondrogenesis
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- dominant
- lethal - cleft palate - small chest - pulmonary hypoplasia - problem with type II collagen |
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Discuss Spondylometaphyseal Dysplasia
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- spurs
- corner fracterus - type II collagen defect |
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Stickler syndrome
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- mildest of type II collagen defects
- autosomal dominant - marfanoid - cleft palate - severe myopia - arthropathy~ jts disintegrate - type XI collagen inserts at Type II spots |
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What syndrome is similar to Marfan, but more severe and has defects in TGF-Beta receptors
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- Loeys-Dietz
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What is the most common disorder of FGFR3?
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- achondroplasia
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Discuss Achondroplasia
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- most common dwarfism
- autosomal dominant - 80% new mutation in fibroblast growth factor receptor (FGFR3) - 85% have G to C or A at nucleotide 1138 |
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What are 3 allelic disorders related to achondroplasia in the FGFR3 defect family
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- Thanatophoric dyplasia (neonatal death)
- SADDAN (mentally retarded) - Hypochondroplasia (50% mental problems) **allelic heterogenecity mutation |
