cytogenetics Flashcards
what is cytogenetics?
the study of whole chromosomes (structure, number, morphology etc) in order to understand how they can lead to specific disorders
How is a karyotype produced?
to study chromosomes of a single organism, geneticists arrange micrographs of the stained chromosomes in homologous pairs of decreasing size to produce a karyotype
What aids karyotyping?
chemical stains such as quinacrine and giemsa can be used to differentially stain chromosomes to reveal species specific banding patterns
what are telomeres?
caps of the chromosomes which protect the chromosome from being condensed after cell division
all genes in the euchromatin can be easily transcribed, true or false?
true
What can human metaphase chromosomes be categorised by?
length of the arms and centromere location
How are metacentric chromosomes identified?
have short and long arms of roughly equal length with the centromere in the middle
How are submetscentric chromosomes identified?
have short and long arms of unequal length with the centromere more towards one end
how are acrocentric chromosomes identified?
have a centimetre very near one end and have small short arms - have secondary constructs on the short arms that connect very small pieces of DNA to the centromere
What does ploidy mean?
something with ploidy on the end refers to the number of chromosomes
how do you refer to an organism with 2 sets of chromosomes?
diploid cell
how do you refer to something with one set of chromosomes?
haploid cell
How many chromosomes does a human have?
23 pairs (46 in total)
22 pairs of autosomes
1 pair of sex chromosomes (XX and XY)
How do diploid cells reproduce?
By mitosis making daughter cells that are exact replicas
e.g. of cells include skin, blood, muscle cells (somatic cells)
What are haploid cells the result of?
the process of meiosis, a cell division which diploid cells divide to give rise to haploid germ cells
cells used in sexual reproduction (egg and sperm)