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name two examples of monogenic disorders
CF and sickle cell anaemia
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Name three examples of polygenic disorders
Type 2 diabetes, schizophrenia and rheumatoid arthiritis
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What mutation leads to you being immune to the HIV-1 virus
Lacking the chemokine CCR5 receptor
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Herceptin blocks the overexpression of what in breast cancer
Her2
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What is the human Karyotype
46 chromsomes, 22 pairs of autosomes and one pair of sex chromosomes
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Staining allows chromosome characteristics to be expressed due to
G-banding (stained in their metaphase spreads)
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What three things characterise a chromosome
G-banding, location of centromere and size
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Describe the three difference centromere locations
Metacentric (p and q arms are the same length) submetacentric (p arm is shorter than q) and acrocentric (p arm is a satellite and stalk)
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One round of DNA replication and one round of segregation is
Mitosis
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One round of DNA replication and recombination and 2 rounds of segregation
Meiosis
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What area of a chromosome determines maleness and why
The SRY region, encodes for testes determining factor
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50% of spontaneous abortions are due to
Trisomies
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Trisomy 21
Downs syndrome, 47 X or Y + 21. Retardation, single crease along palm, heart defects and increased risk of acute leukemia
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Trisomy 18
Edwards. Kidney malformations, heart defects, intenstines protruding outside the body. 95% die in utero, 50% of those who survive make it to 2 months and 5-10% first year
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Trisomy 13
Patau syndrome. Heart defects, incomplete brain development, small or missing eyes, spinal defects and seizures. Mean life expectancy = 130days
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Why are trisomy's 21, 18 and 13 the only trisomes to be born
They are small chromosomes and therefore fewer genes to be trireplicated
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XXY - Klinefetter
infertile (5% males in fertility clinics), small testes
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X - Turner
Short stature and amenorrhea. Infertile
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XYY - XYY syndrome
Increased growth
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Trisomys and Monosomies are examples of
Aneuploidys
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Aneuploidys are caused by
non-disjunction - failure to seperate homologous chromosome pairs
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Why does the chances of having a baby with downs increase with age
Aneuploidy in oogenesis. All eggs are suspended in meiosis one until fertilised where they undergo meisosis 2. Ova are as old as the mothers
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What four types of mendelian inheritance are there?
Autosomal recessive, Autosomal dominant, X-linked recessive, X-linked dominant
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Autosomal recessive
CFTR. 7th chromosome, 508th Codon. Rare. Affects males and females equally and transmitted by either sex.
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Autosomal dominant
HD. CAG repeat. Normal 28, >36 = aggregation of protein, cytoxicty and then neuronal cell death. Trait frequet in pedigree, males and females equally
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The development of HD increases as do the CAG repeats through the generations. This is an example of
Genetic anticipation
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X-linked recessive
Haemophilia A. Frequent in males, all daughters of affected fathers are carriers
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X-linked dominant
Vit D resistant rickets. all daughters of affected men are affected
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If a gene is more frequent in MZ twins than DZ the disease can be assumed to be
Caused by a genetic component more so than an environmental one
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Card 2

Front

Name three examples of polygenic disorders

Back

Type 2 diabetes, schizophrenia and rheumatoid arthiritis

Card 3

Front

What mutation leads to you being immune to the HIV-1 virus

Back

Preview of the front of card 3

Card 4

Front

Herceptin blocks the overexpression of what in breast cancer

Back

Preview of the front of card 4

Card 5

Front

What is the human Karyotype

Back

Preview of the front of card 5
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