Lec 3 - SAQ Genetics Quiz

Homozygous AA - Group A BB - Group B OO - Group O Heterozygous AO - Group A BO - Group B AB - Group AB (co-dominant expression)

Carry O2

23

<p>Both paternal and maternal alleles are expressed (αβ)2 (Haemoglobin A)</p> Signup and view all the answers

<p>Hb F (α2γ2) - Foetal Haemoglobin (HbFF)</p> Signup and view all the answers

<p>320-350g/L of cytoplasm</p> Signup and view all the answers

<p>Haemoglobinopathies and Thalassaemias</p> Signup and view all the answers

<p>Mutation in β globin gene sequence</p> Signup and view all the answers

<p>Codominance is when two alleles of the same gene which code for proteins with different specific functions are co-expressed in heterozygote individuals.</p> Signup and view all the answers

<p>The H antigen is responsible for the synthesis of a sequence of monomers on the surface of red blood cells.</p> Signup and view all the answers

<p>The H locus is located on chromosome 19.</p> Signup and view all the answers

<p>The ABO locus on chromosome 9 determines the ABO blood group.</p> Signup and view all the answers

<p>Codominance is when both alleles are expressed completely, while incomplete dominance is a blending of traits.</p> Signup and view all the answers

<p>The AB blood group is an example of codominance.</p> Signup and view all the answers

<p>Hemoglobin biosynthesis is the process of producing hemoglobin and it changes during development and is regulated.</p> Signup and view all the answers

<p>Mutations that disrupt the balanced biosynthesis of globin production lead to thalassemias.</p> Signup and view all the answers

<p>HBB</p> Signup and view all the answers

<p>2</p> Signup and view all the answers

<p>Chromosome 11</p> Signup and view all the answers

<p>Minor and Major</p> Signup and view all the answers

<p>Minor: heterozygous mutation, one defective gene copy. Major: homozygous/compound heterozygous mutations, both gene copies defective</p> Signup and view all the answers

<p>Transcription (promoter), Processing of mRNA, Translation of mature mRNA, Post translation integrity of β globin</p> Signup and view all the answers

<p>β/β0 or β/β+</p> Signup and view all the answers

<p>β0/β0, β+/β+, or β0/β+</p> Signup and view all the answers

<p>Clinically asymptomatic or mild symptoms (mild microcytic anaemia)</p> Signup and view all the answers

<p>Antimorph (dominant negative)</p> Signup and view all the answers

<p>Neomorph</p> Signup and view all the answers

<p>Chorionic Villous Sampling (9-10 weeks) PCR Amplify Fragment of β-globin Gene Oligonucleotide Probe Hybridization/Sequencing</p> Signup and view all the answers

<p>Not specified in the text</p> Signup and view all the answers

<p>16%</p> Signup and view all the answers

<p>4%</p> Signup and view all the answers

<p>Not specified in the text</p> Signup and view all the answers

<p>Deletions, Insertions, Substitutions, Frameshifts, Dynamic mutation (tandem repeats e.g. HD)</p> Signup and view all the answers

<p>Loss of function (inactivating) and Gain-of-function (activating)</p> Signup and view all the answers

<p>It refers to the coexistence of two or more alleles in a population, maintained at a relatively stable frequency due to selective advantage</p> Signup and view all the answers

<p>Sickle cell trait refers to individuals who inherit one copy of the sickle cell gene and do not usually experience symptoms, while sickle cell anaemia occurs in individuals who inherit two copies of the sickle cell gene and experience severe symptoms</p> Signup and view all the answers

<p>Mutations distant from structural genes can affect gene regulation and disrupt normal protein production, leading to disease. An example is thalassaemia</p> Signup and view all the answers

<p>DNA Transcription Pre mRNA Splicing mRNA Translation peptide Post –Translation Folding Protein Then multimer assembly</p> Signup and view all the answers

<p>A permanent heritable change in the nucleotide sequence of a gene or chromosome</p> Signup and view all the answers

<p>Guanine is replaced by Adenine</p> Signup and view all the answers

<p>Balanced polymorphism refers to the persistence of multiple alleles in a stable equilibrium in a population, with one allele being disadvantageous in the homozygous state.</p> Signup and view all the answers

<p>The sickle cell allele is particularly associated with populations that originated from areas with a high incidence of malaria. Natural selection favors the HbAS sickle cell trait as it provides protection against malaria.</p> Signup and view all the answers

<p>Sickle cell anaemia (HbSS) is a recessive inherited disorder characterized by a clinically manifest phenotype, while sickle cell trait (HbAS) is a dominant inherited trait with a cryptic phenotype.</p> Signup and view all the answers

<p>Sickle cell anaemia (HbSS) follows an autosomal recessive pattern of inheritance.</p> Signup and view all the answers

<p>Thalassaemias are inherited disorders of balanced haemoglobin biosynthesis, characterized by an imbalance in the production of structurally normal globin chains.</p> Signup and view all the answers

<p>In β-thalassaemias, the regulation of gene expression is critical to function. Mutations in the β-globin gene promoter, such as the A to G mutation at position -34, can disrupt binding of the transcription machinery and result in reduced or no transcription of the gene.</p> Signup and view all the answers

<p>First, the blood of both parents should be checked by Hb electrophoresis. If both parents have the β-thalassaemia trait, more invasive tests such as chorionic villus sampling (CVS) or amniocentesis can be performed to obtain fetal DNA for PCR/sequencing analysis.</p> Signup and view all the answers

<p>The abnormal shape of the face in β-thalassaemia is related to the physiological response to compensate for the physiological deficit associated with the inherited mutation. Hypoxia leads to increased production of erythropoietin (EPO), which causes bone marrow hyperplasia and distorts the bones.</p> Signup and view all the answers

<p>Sickle cell anaemia is mainly seen in people of African descent and is characterized by an autosomal recessive pattern of disease. It is caused by the presence of abnormal haemoglobin (HbS) that distorts red blood cells into a sickle shape, leading to various complications such as pain crises, organ damage, and increased susceptibility to infections.</p> Signup and view all the answers