Term
|
Definition
| this type of disease occurs when an alteration in DNA of a gene changes the the gene products amount or function or both |
|
|
Term
|
Definition
| this type of disease is one in which the primary disease-causing event is a mutation inherited or acquired |
|
|
Term
|
Definition
| occur in the process of producing a normal protein Transcription, Translation and maturation |
|
|
Term
|
Definition
| result from a failure of a modifying event (usually involves a mutation in another protein) that is required for maturation of the protein |
|
|
Term
|
Definition
these genes were the first to be cloned
also provide a model of gene action during development |
|
|
Term
|
Definition
| the histidine to which iron is covanlenly linked |
|
|
Term
|
Definition
| G g, A g are identical, except amino acid residue ____ |
|
|
Term
|
Definition
| are accompanied by changes in the major sites of erythropoesis |
|
|
Term
|
Definition
| 6th week, concomitant with switch from yolk sac to fetal liver |
|
|
Term
| Erythroid-specific Enhancer elements |
|
Definition
GATA
TGACTCAG (NF-E2) these are examples of |
|
|
Term
|
Definition
| Locus Control Region for α-Globin Gene Cluster |
|
|
Term
|
Definition
| Contains _____-acting elements for binding of erythroid-specific transcription factors |
|
|
Term
|
Definition
| locus control region for beta globin is located where? |
|
|
Term
| sigma, delta, gamma, beta-thalassemia |
|
Definition
| deletion in the LCR of the Beta globins leads to this |
|
|
Term
|
Definition
altered globin polypeptide without affecting rate of synthesis; Result mostly from point mutations
Classification depending on clinical phenotype
Variants that cause Hemolytic anemia
Novel properties
Unstable
Variants that cause altered oxygen transport |
|
|
Term
|
Definition
| decreased synthesis of one or more globin chains |
|
|
Term
| Hereditary Persistence of fetal hemoglobin |
|
Definition
| impaired perinatal switch from γ to β-globin synthesis |
|
|
Term
|
Definition
| this disease results from a change in the polypeptide chain associated with the B chain PHE42-->SER; unstable Hb, Hb precipitation, and a decreased O2 affinitiy |
|
|
Term
|
Definition
| this disease is a result in the beta chain 5 amino acid deletion; unstable Hb, Increased 02 affinity; slipped mispairing during DNA replication within same gene 15 base pair in-frame deletion in beta globin |
|
|
Term
|
Definition
| what technique do you use for sickle cell diagnosis |
|
|
Term
|
Definition
| Mutation in β globin, residue 6, Glu→Lys |
|
|
Term
|
Definition
| this hemoglobin disease is a change in the beta chain from HIs92--> Tyr. the substitution makes oxidized heme iron resistant to methemoglobin reductase which cant carry O2 and causes cyanosis |
|
|
Term
|
Definition
| in this hemoglobin deficiecny the b chain changes from ASP99-->ASN; it keeps the Hb in its high o2 affinity structure and causes less O2 to tissues and polycythemia; mutation locks hemoglobin into relaxed structure |
|
|
Term
|
Definition
| this hemoglobin deficiency is a change in the beta chain Asn102--> thr; this substitution keeps the Hb in its low O2 affinity structure and is asymptomatic and can causes cyanosis; mutation inhibits formation of relaxed structure |
|
|
Term
|
Definition
| this hemoglobin deficiency is an addition of 11 residues in the beta chain and causes a greatly increased O2 affinity due to the new C-terminal hydrophobic tail preventing formation of a stable deoxy structure |
|
|
Term
|
Definition
| Hb capable of reversible oxygention and the Heme iron is in reduced state |
|
|
Term
|
Definition
| accumulation of methemoglobin causes? |
|
|
Term
| NADH cytochrome b5 reductase |
|
Definition
| what maintains Heme iron in the reduced state? |
|
|
Term
|
Definition
| sturctual variant of Beta globin gene--> Glu26Lys homozygotes asymptomatic with mild anemia, mutation occurs in the coding region and activates cryptic splice site which competes with the normal donor site which causes a reduced usage of the normal donor site |
|
|
Term
|
Definition
| sigma globin gene deleted but fusion gene sigma beta is present in this condition |
|
|
Term
|
Definition
| in this condition both sigma globin gene and fusion gene beta sigma are present example Hb Miyada |
|
|
Term
|
Definition
| these are all symptoms of what; chain that is produced at normal rate is in relative excess--> precipitates in cell (Heinz Bodies)--> damage to cell membrane--> premature red cell destruction--> hemolytic anemia and a defect in production of hemoglobin--> hypochromic, microcytic anemia |
|
|
Term
|
Definition
| a gamma 4 composition leading to hydrops fetalis |
|
|
Term
|
Definition
| in this beta thalassemia; chipmunk facies, frontal bossing, thinning and pathological fractures of long bones and vertebrae (widening diploic space radiating straitions; hair on ned appearance" |
|
|
Term
|
Definition
| this is also known as a beta 4 tetramer (5-40%) |
|
|
Term
|
Definition
| due to homozygous deletion of all four alpha and beta genes |
|
|
Term
|
Definition
| this is a nondeletion form of alpha thalassemia which is less common and due to instability of mutant alpha globin chain |
|
|
Term
| calorie diversion to erythropoeisis |
|
Definition
| growth retardation, inanity, increased risk of infections, endocrine dysfunction and death during first decade |
|
|
Term
|
Definition
| usually present as profound microcytosis, hypochromia, minial or mild anemia, increase in Hb A2, +/- increasae in HbF |
|
|
Term
|
Definition
| result mostly from point mutations only common beta globin deletion-->619 bp deletion at 3' end and most mutation decrease the abundance of B-globin mRNA |
|
|
Term
| splice junction mutations |
|
Definition
| mutations in 5' intron donor or 3' intron acceptor sites |
|
|
Term
|
Definition
| intron mutations that activate cryptic splice site |
|
|
Term
| exon mutations that affect splicing |
|
Definition
| exon mutation that affect splicing by activating cryptic splice sites (e.g. HbE) |
|
|
