menopause in Turner syndromemenopause before menarche
both copies of the X chromosome are required to prevent premature follicular atresia→☆premature follicular apoptosis reproductivegenetics Oct 19, 2019, 1:47 AM HirotoShishido
three types of Ehlers-Danlos syndrome
mutation(deficiency in proteolytic processing)
・hypermobility type(the most common, genetic variation)
・classic type(joint and skin symptoms, mutation in type Ⅴ collagen)
・vascular type(fragile vessels, muscles, organs that are prone to rupture, deficient type Ⅲ procollagen) geneticsbiochemistry Sep 23, 2019, 5:47 AM HirotoShishido
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how common?, symptoms, pathophysiologythe second most common genetic cause of intellectual disability=fragile X syndrome(FXS)
(CGG)n (protruding)Chin, Giant Gonads(after puberty)
+★autism, ☆large head,★ large ears
FXS is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. FMR1 normally has 5 to 55 CGG trinucleotide repeats and can potentially expand during meiosis in oocytes. "Full mutation" is characterized by >200 CGG trinucleotide repeats, which causes FMR1 ☆h... geneticsUWorldUWorld step2CK Sep 20, 2019, 5:54 AM HirotoShishido
Gardner syndrome
Lynch syndrome
associated tumorGardner→＋FAP osseous and soft tissue tumor(osteomas of skull or mandible)
what makes nucleosomeDNA(negatively charged due to phosphate groups) loops twice around a histone octamer(H2A, H2B, H3, H4×2, positively charged due to lysine and ☆arginine)
H1 histone is located outside of the histone core, binding the linker segments of DNA and facilitate packaging of nucleosome into more compact structures. geneticsbiologyUWorld Sep 19, 2019, 8:24 AM HirotoShishido
