variable expressivity
patients with the same genotype have varying phenotypes
genetics
trisomy 18 physical findings
Edward synd (Election age)
genetics
国試過去3回
cells in which telomere length is maintained by telomerase
cells with high turnover rate
genetics
UWorld
early and late onset of Alzheimer's disease
eary→ associated with Amyloid precursor protein(APP) (on chromosome 21)
neurology
genetics
UWorld
allelic heterogeneity
allelic→ different mutations at the same locus produce a similar phenotype
biochemistry
genetics
menopause in Turner syndrome
menopause before menarche
reproductive
genetics
picture
MELAS(one of the types of mitochondrial myopathy)
genetics
neurology
achondroplasia deformity
dwarfism
musculoskeletal
genetics
neoplasm associated with BCL-2 overexpression
follicular and diffuse large B Cell Lymphoma
genetics
hematology
UWorld
ゲノムの構造
1.5% のエキソン 48Mb(4800万)
genetics
生物の体内における遺伝子発現パターンの解析
reporter gene を用いる
genetics
部分特異的変異導入の方法
oligonucleotide-directed mutagenesis
genetics
トランスジェニックによる遺伝子機能の割り当て
高活性のプロモーター配列を含んだ(タンパク質の確実な合成のため)クローニングベクターにtarget geneをcDNAとして挿入。
genetics
