Hemophilia B inheritance
autosomal recessive
Hemophilia B gene
Factor IX
Huntington disease inheritance
Autosomal dominant
Huntington disease gene
HD (Huntingtin)
Achondroplasia inheritance
Autosomal dominant
Achondroplasia gene affected
FGFR3
NF type 1 inheritance
autosomal dominant
NF type 1 gene
NF1
NF type 1 hallmarks
cafe-au-lait spots, neurofibromas
Marfan syndrome inheritance
Autosomal dominant
Marfan syndrome gene
FBN1
Familial hypercholesterolemia inheritance
Autosomal dominant
Familial hypercholesterolemia gene
LDL Receptor
Hurler syndrome inheritance
autosomal recessive
Hurler syndrome gene
a-L-iduronidase
Hurler syndrome hallmark
Lysosomal storage disorder
Hereditary hemochromatosis inheritance
autosomal recessive
Hereditary hemochromatosis gene
HFE
Cystic fibrosis gene
CFTR
Sickle cell anemia inheritance
autosomal recessive
Sickle cell anemia gene
B-globin
Phenylketonuria inheritance
Autosomal recessive
Phenylketonuria gene
Phenylalanine hydroxylase
B-thalassemia inheritance
Autosomal recessive
B-thalassemia gene
B-globin
B-thalassemia hallmark
Hemoglobinopathy
Tay Sachs inheritance
Autosomal recessive
Tay Sachs gene
HexA
Tay Sachs hallmark
Lysosomal storage disorder
Fragile X inheritance
X-linked dominant
Fragile X gene
FMR1
Fragile X hallmark
mental retardation
Rett syndrome inheritance
X-linked dominant
Rett syndrome gene
MeCP2
Hemophilia A inheritance
X-linked recessive
Hemophilia A gene
Factor VIII
Lesch-Nyan syndrome inheritance
X-linked recessive
Lesch-Nyan gene
HGPRT
Lesch-Nyan hallmark
Self-mutilation
Duchenne muscular dystrophy inheritance
X-linked recessive
Duchenne muscular dystrophy gene
Dystrophin
Becker muscular dystrophy inheritance
X-linked recessive
Becker muscular dystrophy gene
Dystrophin
Red green color blindness inheritance
X-linked recessive
G6PD deficiency inheritance
X-linked recessive
OTC deficiency inheritance
X-linked recessive
CPEO inheritance
Mitochondrial
LHON inheritance
Mitochondrial
MELAS inheritance
Mitochondrial
MERRF inheritance
mitochondrial
Kearns-Sayre syndrome inheritance
Mitochondrial
Leigh syndrome inheritance
Mitochondrial
Pearson syndrome inheritance
Mitochondrial
HPV pathology
decreases p53, increases E2F
Li-Fraumeni Syndrome
hereditary defect in TP53
HNPCC or Lynch Syndrome inheritance
Autosomal dominant
Lynch Syndrome mutations
MSH2 & MLH1 involved in DNA repair
BRCA is a ?
tumor suppressor
G1 (early) cyclin and CDK
Cyclin D-CDK4/6
G1(late) cyclin and cdk
Cyclin E-CDK2
G1/S cyclin and cdk
Cyclin A-CDK2
S/G1 cyclin and CDK
Cyclin A-CDK1
M cyclin and CDK
Cyclin B-CDK1
G2-M and M phase checkpoints require which cyclin-CDK
Cyclin B-CDK1
G2-M checkpoint requires ___ and activation of what?
DNA replication completed, activation of CDK1
M phase requires?
degradation of CDK1 activity
p16
inhibits CDK4 and CDK 6
p21
inhibits all CDKs except 4 and 6