Genomes in human body are
20000-30000
Introns /non coding make up
98.5%
Homozygous
Both alleles are same
Both alleles are different
Heterozygous
Example of co-dominant
ABO blood grouping, HLA
Which AA is replaced by glutamic acid in Sickle cell anemia?
Valine, at 6th position
Example of pleiotropism
Sickle cell anemia
Anticipation is
Severity of disease increases with each succesive generation
Example of anticipation
Trinucleotide repeat mutations (fragile X synd)
2 types of mutations
Point mutation
Frame shift mutations
What is point mutation?
Single loci/nucleotide affected
3 types of point mutation are
Silent, missense, non sense mutations
Example of non sense mutation
Beta thalassemia
Sickle cell anemia can be found in which type of point mutation?
Missense mutation
Frame shift mutation example
Beta thalassemia
Tumor supressing miRNA are good or bad?
Good
Tumor suppresing miRNA are
miR 15,16
Oncogenic miRNA are
miRNA 155,200
Oncogenic mirna seen in
B cell lymphomas
Epigenetics is reversible or irreversible
Reversible
Diagnostic techniques for gen did dx
Cytogenetic techniques and molecular genetic techniques
Cytogenetic techniques are used for
Known, large chromosomal defects
Techniques used in cytogenetic techniques?
Karyotyping
FISH
