Ch10 Flashcards

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1
Q

What does the Mendelian inheritance study? What did he do? What was the result?

A
  • study only a pair of contrasting characters
  • crossed pure-breeding plants and counted the offspring –> crossed F1 plants with each other –> F2 generation
  • dominant phenotypes appear in F1 –> recessive phenotype re-appear in F2 –> F2 ratio 3: 1 (dominant : recessive)
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2
Q

What are alleles? What can they be? What is the effect of dominant and recessive alleles? What does Mendel’s first law (law of segregation) refer to?

A
  • an alternative form of genes occurring in plants
  • two alleles can be different (heterozygous) or same (homozygous)
  • dominant allele determines the phenotype; recessive allele has no noticeable effect
  • Mendel’s first law (law of segregation): during gamete formation, the two alleles of a gene segregate so that each gamete only has one allele
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3
Q

What is test cross used for? How to conduct it? What result indicates what?

A
  • to determine the genotype of an organism as an organism with dominant phenotype can be heterozygous or homozygous
  • cross the organism with a homozygous recessive individual
  • all offspring are dominant –> homozygous
  • half dominant and half recessive –> heterozygous
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4
Q

What does dihybrid cross refer to? What is Mendel’s second law (law of independent assortment) about? What is the phenotype ratio of dihybrid cross?

A
  • a cross of two pairs of characteristics
  • each pair of alleles segregates independently of other pair of alleles during gamete formation
  • either of a pair of alleles can pair with either of other pair of alleles –> 9:3:3:1 phenotype ratio of F2
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5
Q

How does the law of segregation relate to meiosis?

A
  • alleles on homologous chromosomes segregates at meiosis I
  • sister chromatids segregate at meiosis II
  • each gamete only carries one allele
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6
Q

How does the law of independent assortment relate to meiosis?

A
  • each of a pair of alleles on homologous chromosomes may combine with either one of another pair of alleles on different homologous chromosomes
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7
Q

How to describe the relationship between genotype and phenotype? What are the examples of non-Mendelian inheritance?

A
  • not easy to predict
  • incomplete dominance, codominance, polygenic inheritance, autosomal linkage and sex linkage
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8
Q

Describe organisms that are incomplete dominance. Give an example of breeding and generation produced in terms of phenotype and genotype.

A
  • heterozygous display a phenotype intermediate between the homozygotes (flower colour of snapdragons)
  • homozygous red (RR) x homozygous white (rr) –> F1 offspring (Rr) are heterozygous and pink
  • F2 offspring display 1:2:1 phenotype (red:pink:white) and genotypic (RR:Rr:rr) ratio
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9
Q

Describe organisms that are codominance. Give an example which is codominance.

A
  • both alleles are expressed in the phenotype of heterozygotes (blood group)
  • ABO blood group system: IA and IB are codominance; i is recessive (blood group AB is codominance)
  • IA, IB and i determine the structure of carbohydrates on the surface of red blood cells
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10
Q

What is polygenic inheritance and its characteristics? Give examples of polygenic inheritance. What is pleiotropy?

A
  • a single phenotype is controlled by multiple genes
  • phenotypes show a normal distribution
  • affected by environmental factors
  • skin colour, height, weight and intelligence
  • a single gene can influence multiple phenotypes
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11
Q

What are autosomes? How and what favours them to inherit together? How can they induce genetic variation?

A
  • chromosomes other than sex chromosomes
  • all alleles located close together on the same chromosome are linked –> inherit together
  • alleles on the same chromosome may be separated by crossing over (prophase I of meiosis) –> creation of new recombinants –> induce genetic variation
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12
Q

Where do sex-linked genes locate? How are X-linked and Y-linked genes can be passed respectively?

A
  • located on either of the sex chromosomes
  • X: from mother to daughter/ father to daughter/ mother to son
  • Y: from father to son (will be affected in a homozygous state)
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13
Q

What is the cause of genetic diseases? What are the two major types of mutations? Describe their characteristics.

A
  • caused by mutations
  • chromosome mutation
    => changes in chromosome structure
    => deletion, insertion, inversion and translocation
    => observable under microscope
  • gene mutation
    => changes in nucleotide sequences
    => cannot be seen under microscope
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14
Q

How do mutations arise?

A
  • spontaneous mutation
    => occur naturally without any known cause
  • induced mutation
    => occur artificially by mutagens
    => chemical mutagens: nitrous acid, nucleotide base analogs
    => physical mutagens: ultra-violet radiation, X-rays and gamma-rays
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15
Q

What is cystic fibrosis? What is affected? What is its normal function? How will it be affected? What is the cause of CF?

A
  • common single-gene disorder, affecting 1 in 2000 newborn babies
  • normal allele encodes a protein, cystic fibrosis transmembrane conductance receptor (CFTR) which is a CL- channel
  • CFTR is used to export CL- ions across the plasma membrane of epithelial cells lining the lung airways –> H2O follows CL- due to osmosis
  • CF allele impairs the outward transport of CL- and H2) –> thick and sticky mucus build up in the lungs –> repeated bacterial infections –> long-term lung damage
  • a 3-base pair deletion called ∆F508 is the most common mutation causing CF –> deletion of a single amino acid called phenylalanine (F) at position 508 –> non-functional CFTR protein
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16
Q

(Autosomal recessive disease) When will recessive phenotypes be expressed? What does it indicate if a child is affected but his/her parents do not? What is the probability of offspring being infected/ normal if both of his/her parents are heterozygous?

A
  • only be expressed at a homozygous state (homozygous recessive)
  • both parents must be heterozygous (carriers)
  • for the offspring, 75% unaffected and 25% affected
17
Q

What is Huntington’s disease? What is the cause of it? What is different when comparing affected people with normal people? What are the symptoms?

A
  • genetic and neurological disorder, usually affects people >50 years old
  • trinucleotide repeat expansion (CAG; encoding glutamine) in Hungtington (HTT) gene —> mutated Huntington (HTT) protein
  • normal has around 15 repeats while mutant has >40 —> abnormally long glutamine tract in HTT —> aggregation of HTT —-> increased neuron degradation
  • memory loss, depression, involuntary dance-like movements, (loss of speech and decreased ability to swallow)
18
Q

Who will be affected for autosomal dominant diseases? What is the chance for heterozygous parent to produce an affected child?

A
  • all heterozygous individuals will be affected
  • 50%
19
Q

What is the cause of haemophilia? What are the symptoms of haemophilia? Which sex has higher chance and what is the reason behind? What is the characteristic of X-linked diseases?

A
  • mutation of gene encoding for blood clotting factor XIII (haemophilia A) or IX (haemophilia B) located on X chromosome —> inability to form blood clot
  • excessive bleeding or spontaneous internal bleeding
  • males only have one X chromosome (hemizygous) —> higher frequency of haemophilia
  • most X-linked disorder are recessive —> most females are unaffected but they can still be the carrier
20
Q

What will be the chance for woman who is a carrier of an X-linked recessive disorder to have an affected son (with an unaffected father)? From who the infected son received an X-linked mutated allele?

A
  • 25%
  • from the mother
21
Q

What is the other name for Down syndrome? What is the cause of it? What are the symptoms?

A
  • trisomy 21
  • failure to separate homologous chromosome in meiosis I or failure to separate sister chromatids in meiosis II —> three copies of chromosome 21
  • mental and growth retardation, unusual facial fractures (flat face, short neck and small head)