Notes in G&H Week 2

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Status	Last Update	Fields
Published	08/12/2024	It is the visible collection of an individuals complete genetic material
Published	08/12/2024	Chromosomes other than sex chromosomes
Published	08/12/2024	Single nucleotide polymorphisms - changes in a single base pair
Published	08/12/2024	Copy number variants - variations in the number of a certain gene
Published	08/12/2024	By their distinct banding patterns of hetero- and euchromatin
Published	08/12/2024	isolation of fetal cells from maternal blood,amniocentesis,chorionic villi sampling
Published	08/12/2024	It is the sampling of amniotic fluid for health tests
Published	08/12/2024	It is the sampling of chorionic villi from the placenta for health tests
Published	08/12/2024	Once isolated, the karyotype is dyed with Giemsa. This stains heterochromatin dark and euchromatin light. The karyotype is then scanned, chromosomes a…
Published	08/12/2024	Spectral karyotype analysis - each chromosome is labelled with a specific dye, identifying them by colour
Published	08/12/2024	Chromosome number does not indicate complexity, however closely related species tend to have similar numbers
Published	08/12/2024	constitutive: condensed in all cellsfacultative: condensed in some cells
Published	08/12/2024	centromere is in the centre - p and q arm are almost the same length
Published	08/12/2024	centromere is slightly off-centre - p and q arm are not hugely different in length
Published	08/12/2024	This is a chromosome which has a very short p arm and a very long q arm, in comparison to each other
Published	08/12/2024	A non-expressed protective 'cap' at the end of each arm of a chromosome which is made up of repetitive sequences and shortens over the lifespan
Published	08/12/2024	constitutional: affect every single cell and happen during gamete formationacquired: develop during early mitotic stages of embryo development and aff…
Published	08/12/2024	In this type of mitotic failure, one chromatid fails to migrate toward its pole. The chromatid lags behind in anaphase and is excluded from the new ce…
Published	08/12/2024	non-disjunction is when, during meiotic division, chromosomes are not split and both copies end up in 1 daughter cell, leaving the other with no copy.…
Published	08/12/2024	The addition or loss of chromosomes or parts of chromosomes. an(not)eu(normal)ploidy(ploid = number of chromosome copies)
Published	08/12/2024	non-disjunction
Published	08/12/2024	trisomy, extra information is generally detrimental but more compatible with life than missing information
Published	08/12/2024	addition of whole sets of chromosomes
Published	08/12/2024	generally, the embryo won't develop. exceptions are chromosome 18 and 21, as they are small and contain less genetic information
Published	08/12/2024	Generally embryonically lethal, with exception of sex chromosomes as these have less genetic information
Published	08/12/2024	spontaneous abortion
Published	08/12/2024	Only 1 X chromosome is used, including females. The remaining becomes hypercondensed into a "Barr body"
Published	08/12/2024	47, XXY (Klinefelter syndrome)
Published	08/12/2024	This happens when genes are expressed in some cells but not others. Generally as a consequence of acquired chromosomal abnormalities. eg: ectodermal d…
Published	08/12/2024	47, XXY - develop male breats (gynecomastia), hypogonadism and show other subtle abnormalities
Published	08/12/2024	- errors during gamete formation, where genetic material is duplicated but the cell fails to divide- dispermy, where two sperm fertilise an egg at the…
Published	08/12/2024	UV, X-rays and gamma rays
Published	08/12/2024	inversions, translocations, deletions, duplications
Published	08/12/2024	The fluorescent in situ hybridization works by:-arresting cells in metaphase-adding gene-specific probes which are fluorescent or will bind a fluoresc…
Published	08/12/2024	Detecting presence or absence of certain genes, including micro-deletions due to DNA damage
Published	08/12/2024	-A DNA strand may break off and be reinserted at its homologous chromosome which already has an allele for that gene, effectively duplicating the gene…
Published	08/12/2024	A piece of chromosome breaks off and inserted back in the wrong way. If this does not affect a gene, there should be no consequences
Published	08/12/2024	paracentric: does not involve the centromerepericentric: does involve the centromere
Published	08/12/2024	gain of chromosome
Published	08/12/2024	loss of chromosome
Published	08/12/2024	centromere
Published	08/12/2024	deletion
Published	08/12/2024	derivative chromosome
Published	08/12/2024	duplication
Published	08/12/2024	insertion
Published	08/12/2024	invertion
Published	08/12/2024	inverted insertion
Published	08/12/2024	marker chromosome
Published	08/12/2024	maternal
Published	08/12/2024	paternal
Published	08/12/2024	ring
Published	08/12/2024	Robertsonian translocation - translocation due to fusion of 2 centromeres, 1 each from 2 different chromosomes, creating 1 hybrid chromosome
Published	08/12/2024	translocation
Published	08/12/2024	telomere
Published	08/12/2024	terminal (chromosome end)
Published	08/12/2024	1 in 25000, loss of telomeres on both ends causes the chromosome to form a ring because the ends 'stick' together. Depending on how much genetic mater…
Published	08/12/2024	insertional: material from one chromosome to the otherreciprocal: 2 chromosomes 'swap' regions
Published	08/12/2024	A region of 22 fuses with a chromosome 9. this is present in 90% of patients with chronic myelogenous leukemia. It causes uncontrolled cell devision
Published	08/12/2024	translocation does not affect a gene and there are usually no symptoms. The individual, however, has a low chance of producing live offspring and even…
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