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Lernmaterialien für genetics an der University College Cork

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genetic disease 

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a genetic disorder is a disease that is caused by a change or mutation in an individuals DNA sequence. A condition where there is an observable / detectable genetic component

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diseases caused by chromosomal abnormalities 

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Down syndrome (+21) 

Patua syndrome (+13)

Edwards syndrome (+18)

turners syndrome (x chromosome is missing/partially missing affects females only)

Burkitts lymphoma (body makes abnormal B lymphocytes)

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karyotype analysis 

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involves blocking cells in mitosis with colchine, digesting with trypsin, and staining the condensed chromosomes with dye such as giemsa. these stain regions of chromosome that a re heterochromatic, gene poor, AT rich producing a dark band. thinnest bands contains over a million base pairs and potentially hundreds of genes. also stains for specific bands or structures 

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chromosomes nomenclature 

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chromosomes are arranged chart arm on top labelled p. long arm on bottom labelled q

normal chromosome nomenclature males: 46XY females: 46XX

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numerical chromosome abnormalities  


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change in number with no breakage

there are three types 

1. polyploidy

2. aneuploidy

3. mixoploidy 

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polyploidy 
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abnormality of an entire chromosome set 

some cells are naturally polyploidy 

e.g., regenerating liver 

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aneuploidy 


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abnormal number of specific chromosomes 

monosomy - loss of one copy of chromosome pair this is Lethal 

triploidy - additional copy of a chromosome 

nullisomy - loss of both homologues this is preimplantation lethal 

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aneuploidy causes 

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cancer cells often show extreme aneuploidy. aneuploid cells arise from 

non-disjunction: failure of paired chromosomes to separate at meiosis I. one daughter cells inherits both conjoined chromosomes and the other none

anaphase lag: failure to incorporate a chromosome into a daughter cell at cell division this chromosome is lost 

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mixoploidy 


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an individual has cells with different chromosomal composition occurs due to

mosaicism: individual has two or more genetically different cell lines derived from a single zygote 

chimera: as above but cell lines derived from different zygotes. this Is very rare 

aneuploidy mosaics are common e.g., normal/trisomic mixture due to non-disjunction in cell of early embryo 

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down syndrome cause
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caused by trisomy 21 which is caused by the abnormal cell division during the development of the sperm cell or the egg cell. greatly increased incidence with increasing maternal age. 95% due to trisomy 21 5% due to unbalanced translocation between long arm of 21 and usually but not exclusively long arm of 14. chromosome recombination is different in Down syndrome more recombination occurs towards the tops of the chromosome rather than the centre suggesting abnormal pairing 

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Down syndrome clinical features 


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growth retardation, intellectual disability, abnormal facial features, small ears, heart defects, increased incidence leukaemia, premature ageing, short necks 

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karyotype 

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the number, shape, and size of the chromosome of a somatic cell arranged in a standard manner. human karyotype has 46 chromosomes. 23 form each parent. males are XY and females are XX. the sex of offspring determined by the sex chromosome carried in the sperm 

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Beispielhafte Karteikarten für deinen genetics Kurs an der University College Cork - von Kommilitonen auf StudySmarter erstellt!

Q:

genetic disease 

A:

a genetic disorder is a disease that is caused by a change or mutation in an individuals DNA sequence. A condition where there is an observable / detectable genetic component

Q:

diseases caused by chromosomal abnormalities 

A:

Down syndrome (+21) 

Patua syndrome (+13)

Edwards syndrome (+18)

turners syndrome (x chromosome is missing/partially missing affects females only)

Burkitts lymphoma (body makes abnormal B lymphocytes)

Q:

karyotype analysis 

A:

involves blocking cells in mitosis with colchine, digesting with trypsin, and staining the condensed chromosomes with dye such as giemsa. these stain regions of chromosome that a re heterochromatic, gene poor, AT rich producing a dark band. thinnest bands contains over a million base pairs and potentially hundreds of genes. also stains for specific bands or structures 

Q:

chromosomes nomenclature 

A:

chromosomes are arranged chart arm on top labelled p. long arm on bottom labelled q

normal chromosome nomenclature males: 46XY females: 46XX

Q:

numerical chromosome abnormalities  


A:

change in number with no breakage

there are three types 

1. polyploidy

2. aneuploidy

3. mixoploidy 

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Q:


polyploidy 
A:

abnormality of an entire chromosome set 

some cells are naturally polyploidy 

e.g., regenerating liver 

Q:

aneuploidy 


A:

abnormal number of specific chromosomes 

monosomy - loss of one copy of chromosome pair this is Lethal 

triploidy - additional copy of a chromosome 

nullisomy - loss of both homologues this is preimplantation lethal 

Q:

aneuploidy causes 

A:

cancer cells often show extreme aneuploidy. aneuploid cells arise from 

non-disjunction: failure of paired chromosomes to separate at meiosis I. one daughter cells inherits both conjoined chromosomes and the other none

anaphase lag: failure to incorporate a chromosome into a daughter cell at cell division this chromosome is lost 

Q:

mixoploidy 


A:

an individual has cells with different chromosomal composition occurs due to

mosaicism: individual has two or more genetically different cell lines derived from a single zygote 

chimera: as above but cell lines derived from different zygotes. this Is very rare 

aneuploidy mosaics are common e.g., normal/trisomic mixture due to non-disjunction in cell of early embryo 

Q:


down syndrome cause
A:

caused by trisomy 21 which is caused by the abnormal cell division during the development of the sperm cell or the egg cell. greatly increased incidence with increasing maternal age. 95% due to trisomy 21 5% due to unbalanced translocation between long arm of 21 and usually but not exclusively long arm of 14. chromosome recombination is different in Down syndrome more recombination occurs towards the tops of the chromosome rather than the centre suggesting abnormal pairing 

Q:

Down syndrome clinical features 


A:

growth retardation, intellectual disability, abnormal facial features, small ears, heart defects, increased incidence leukaemia, premature ageing, short necks 

Q:

karyotype 

A:

the number, shape, and size of the chromosome of a somatic cell arranged in a standard manner. human karyotype has 46 chromosomes. 23 form each parent. males are XY and females are XX. the sex of offspring determined by the sex chromosome carried in the sperm 

genetics

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