TBL 1 Flashcards
Sickle Cell Anemia exhibits _____ inheritance
autosomal recessive
Sickle Cell Anemia Inheritance: Normal father + father trait (heterozygous) yields
normal children and/or children with the trait
Since sickle cell anemia is autosomal recessive the disorder will only occur in individuals who are ____ for the sickle cells trait
Homozygous recessive
A father with sickle cell anemia + a mother with sickle anemia yields ____
only children with sickle cell anemia
One way for sickle cell anemia to occur for an individual’s parents to both be ___ for the sickle cell trait
heterozygous
A mother with trait (heterozygous) + a father with trait (heterozygous) yields ____
children with trait, normal children, and/or children with sickle cell anemia
There is ___ chance that two parents who are heterozygous for sickle cell anemia would produce a homozygous recessive offspring
25%
A mother with trait (heterozygous) + a father with sickle cell anemia yields ___ and/or ___.
children with trait; children with sickle cell anemia
There is a ___ chance that two parents who are heterozygous for sickle cell anemia would produce a child that would be heterozygous “carrier” or someone who has the trait but does not know
50%
A father with sickle cell anemia + a normal mother yields ____
only children with the trait
The gene that causes Sickle Cell Anemia is called ____ and is located on Chromosome ___.
HBB; 11
HBB helps in the creation of ____ in the body by coding for the ____ or _____.
hemoglobin;
beta chain or beta globulin
Sickle cell anemia results when there is a single point mutation in the HBB gene that changes a ___ become ____which results in a change from the amino acid ____ to ____.
Adenine become thymine;
glutamate to valine
The mutated HBB has valine which then added to the AA chain, it sticks to the hydrophobic area in the ____ of other hemoglobin causing the molecules of hemoglobin to clump together and fibers that form cause the ____ shape.
beta chains; sickle
Sickle cell anemia is generally found in people of ____ descent
African;
In fact 1 in 12 African Americans carry the sickle cell trait. The genetic disorder is also found in people who families come from South or Central America, the Caribbean islands, Mediterranean countries, India, and Saudi Arabia
People with sickle cell anemia cannot contract ____ which means that Africans with the sickle cell trait were able ____ than those who contracted malaria.
Malaria; to live slightly longer
***This process plays a part in the disease’s prevalence in many people of African descent
In ____ thalassemia, there is no detectable normal, B-globin polypeptide synthesized
B0
A thalassemic B-globin gene contains a ______ trasnversion at position ____which results in an abnormal alternative 3’ acceptor splice site
T to G; 116
In the study, the author states that a T116G transversion of IVS1 cause a B0-thallasemia because it leads to an abnormal ____ site.
alternative 3’ acceptor splice
In the study, the author states that a ____ transition of IVS1 causes ___ thallasemia because it leads to an abnormal alternative 3’ acceptor splice site
G110A; B+
In the G110A transition, which causes B+ thalassemia, there is a similar decrease in the amount of mRNA produced as in T116G, however ___ of the mRNA is normally spliced
20%
The T116G transversion mutation results in the creation of a ____ restriction site, as do a number of other thalassemia mutations, and this study demonstrates some of the difficulties in the differential diagnosis of thesis mutation
MaeI
___ thalassemia is when normal beta chains of hemoglobin are produced by in reduced amounts
B+
The demonstration that the IVS1 position 116 mutation creates an MaeI site raises the questions as to whether this mutation can be distinguished from ____ which also creates MaeI sites.
This is important for effective and accurate ____ diagnosis; which is in need, shown by the potential pitfall in diagnosing the thalassemia mutation at IVS1 position 6
other thalassemia mutations; prenatal
____ are premature erythrocytes that require 2 alpha and 2 beta chains for hemoglobin to mature
Reticulocytes
In the T116G transversion, which causes B0- thalassemia, there is ____ fold decrease in the amount of RNA produced with ___ of it being abnormal spliced despite preservation of the normal acceptor splice site at position 130
4; 99%
the 3’ splice site is characterized by an AG, therefore the T116G trasversion in IVS1 results in an abnormal ____ while the normal splice site still remain at 130
This mutation results in B0-thalassemia
alternative acceptor splice site
The 3’ acceptor splice site is characterized by an AG, therefore the G110A transition in IVS1 results in a novel ____ while the normal splice site still remains at 130
This mutation results in B+ Thalassemia
alternative acceptor splice site
No normal detectable B global mRNA = ?
B0- thalassemia
This analysis reveals a dramatic difference in the efficiency with which the abnormal receptor sites are utilized even though the mutations are only ____ away from each other
T116G and G110A
5bp
