autosomal dominant inheritance of congenital ☆telangiectasias to the skin and mucous membranes(lips, oropharynx, GI tract, urinary tract)
associated with AVMs
rupure of these telangiectasias may cause recurrent epistaxis, GI bleeding, and hematuria geneticsUWorld HirotoShishido
Rett syndromede novo mutations in the X linked MECP-2 gene
normal development until age 6-18 months,follwed by a loss of motor and language skills and development of ☆stereotypic hand movements(hand stereotypies)
Gait abnormalities((★)lurching gait)
Head growth deceleration → ★microcephaly
Seizures
Breathing abnormalities
Sleep disturbance
Autistic features geneticspediatricsUWorld step2CK HirotoShishido
series of gene mutations, which cause adenoma to carcinoma sequenceAPC inactivation: normal colon→ hyperproliferative epithelium
Southwestern blotidentify and isolate proteins that bind DNA
DNA binding protein→ ☆c-Jun, c-Fos
(proto-oncogenes)
= leucine zipper motif
→☆transcription factor that contains 30 amino acld alpha helical segment that consists of repeated leucine residues at every 7 position geneticsUWorld SIM2UWorld HirotoShishido
base sequence in promoter regionCAAT box (70-80 bases upstream from the transcription start site)
Hognegs(TATA) box (25 bases upstream)
promotor→ ☆initiate transcription by acting as binding sites for general transcription factors and RNA polymerase Ⅱ geneticsbiologyUWorld HirotoShishido
early and late onset of Alzheimer's diseaseeary→ associated with Amyloid precursor protein(APP) (on chromosome 21)
☆presenilin-1,2
molecules that recognize the stop codon and halt translation(eukaryotic) releasing factor 1 (eRFs)
eRFs binds to the ribosome and stimulate release of the formed polypeptide chain and dissolution of ribosome-mRNA complex geneticsUWorld HirotoShishido
cells in which telomere length is maintained by telomerasecells with high turnover rate
→☆hematopoietic stem cells, epithelial
cells, lymphocytes geneticsUWorld HirotoShishido
menopause in Turner syndromemenopause before menarche
both copies of the X chromosome are required to prevent premature follicular atresia→☆premature follicular apoptosis reproductivegenetics 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 HirotoShishido
Picture
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 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 HirotoShishido
